Canonical Allele Identifier: CA10587145
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 256598
ClinVar RCV Id: RCV000252002 RCV002250363 RCV002463668
dbSNP Id: rs886038347
MyVariant Identifiers: chr12:g.121437195A>G (hg19) chr12:g.120999392A>G (hg38)
ERepo: CA10587145/MONDO:0015967/017
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120999392A>G , CM000674.2:g.120999392A>G GRCh38
NC_000012.11:g.121437195A>G , CM000674.1:g.121437195A>G GRCh37
NC_000012.10:g.119921578A>G NCBI36
NG_011731.2:g.25647A>G , LRG_522:g.25647A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*370+3A>G ENSP00000453965.2:n.*370+3A>G
ENST00000257555.11:c.1623+3A>G MANE Select ENSP00000257555.5:n.1623+3A>G
ENST00000257555.10:c.1623+3A>G ENSP00000257555.4:n.1623+3A>G
ENST00000540108.1:c.*1063+3A>G ENSP00000445445.1:n.*1063+3A>G
ENST00000541395.5:c.1626A>G ENSP00000443112.1:p.Val542=
ENST00000543427.5:c.1086+3A>G ENSP00000439721.2:n.1086+3A>G
ENST00000544413.2:c.1623+3A>G ENSP00000438804.1:n.1623+3A>G
ENST00000560968.5:c.1440+3A>G
ENST00000615446.4:c.411+3A>G ENSP00000483994.1:n.411+3A>G
ENST00000617366.4:c.*32+3A>G ENSP00000481967.1:n.*32+3A>G
NM_000545.5:c.1623+3A>G , LRG_522t1:c.1623+3A>G NP_000536.5:n.1623+3A>G
NM_000545.6:c.1623+3A>G NP_000536.5:n.1623+3A>G
NM_001306179.1:c.1623+3A>G NP_001293108.1:n.1623+3A>G
XM_005253931.2:c.1626A>G XP_005253988.1:p.Val542=
XM_024449168.1:c.1626A>G XP_024304936.1:p.Val542=
NM_000545.8:c.1623+3A>G MANE Select NP_000536.6:n.1623+3A>G
NM_001306179.2:c.1623+3A>G NP_001293108.2:n.1623+3A>G
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