Canonical Allele Identifier: CA386970420
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135848297
MyVariant Identifiers: chr12:g.121435472A>T (hg19) chr12:g.120997669A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997669A>T , CM000674.2:g.120997669A>T GRCh38
NC_000012.11:g.121435472A>T , CM000674.1:g.121435472A>T GRCh37
NC_000012.10:g.119919855A>T NCBI36
NG_011731.2:g.23924A>T , LRG_522:g.23924A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*248+4A>T ENSP00000453965.2:n.*248+4A>T
ENST00000257555.11:c.1501+4A>T MANE Select ENSP00000257555.5:n.1501+4A>T
ENST00000257555.10:c.1501+4A>T ENSP00000257555.4:n.1501+4A>T
ENST00000400024.6:c.1505A>T ENSP00000476181.1:p.Glu502Val
ENST00000402929.5:n.2371A>T
ENST00000535955.5:n.221A>T
ENST00000538626.2:n.369A>T
ENST00000538646.5:c.*481A>T ENSP00000443964.1:n.*481A>T
ENST00000540108.1:c.*941+4A>T ENSP00000445445.1:n.*941+4A>T
ENST00000541395.5:c.1501+4A>T ENSP00000443112.1:n.1501+4A>T
ENST00000541924.5:c.*519A>T ENSP00000440361.1:n.*519A>T
ENST00000543255.1:n.549A>T
ENST00000543427.5:c.964+4A>T ENSP00000439721.2:n.964+4A>T
ENST00000544413.2:c.1501+4A>T ENSP00000438804.1:n.1501+4A>T
ENST00000544574.5:c.*268A>T ENSP00000438565.1:n.*268A>T
ENST00000560968.5:c.1318+4A>T
ENST00000615446.4:c.289+4A>T ENSP00000483994.1:n.289+4A>T
ENST00000617366.4:c.618+4A>T ENSP00000481967.1:n.618+4A>T
NM_000545.5:c.1501+4A>T , LRG_522t1:c.1501+4A>T NP_000536.5:n.1501+4A>T
NM_000545.6:c.1501+4A>T NP_000536.5:n.1501+4A>T
NM_001306179.1:c.1501+4A>T NP_001293108.1:n.1501+4A>T
XM_005253931.2:c.1501+4A>T XP_005253988.1:n.1501+4A>T
XM_024449168.1:c.1501+4A>T XP_024304936.1:n.1501+4A>T
NM_000545.8:c.1501+4A>T MANE Select NP_000536.6:n.1501+4A>T
NM_001306179.2:c.1501+4A>T NP_001293108.2:n.1501+4A>T
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