Canonical Allele Identifier: CA386964343
Gene: HNF1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993608G>T , CM000674.2:g.120993608G>T GRCh38
NC_000012.11:g.121431411G>T , CM000674.1:g.121431411G>T GRCh37
NC_000012.10:g.119915794G>T NCBI36
NG_011731.2:g.19863G>T , LRG_522:g.19863G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.615G>T ENSP00000453965.2:p.Lys205Asn
ENST00000257555.11:c.615G>T MANE Select ENSP00000257555.5:p.Lys205Asn
ENST00000257555.10:c.615G>T ENSP00000257555.4:p.Lys205Asn
ENST00000400024.6:c.615G>T ENSP00000476181.1:p.Lys205Asn
ENST00000402929.5:n.750G>T
ENST00000535955.5:n.43-3883G>T
ENST00000538626.2:n.191-3883G>T
ENST00000538646.5:c.527-556G>T ENSP00000443964.1:n.527-556G>T
ENST00000540108.1:c.*55G>T ENSP00000445445.1:n.*55G>T
ENST00000541395.5:c.615G>T ENSP00000443112.1:p.Lys205Asn
ENST00000541924.5:c.615G>T ENSP00000440361.1:p.Lys205Asn
ENST00000543427.5:c.615G>T ENSP00000439721.2:p.Lys205Asn
ENST00000544413.2:c.615G>T ENSP00000438804.1:p.Lys205Asn
ENST00000544574.5:c.73-3009G>T ENSP00000438565.1:n.73-3009G>T
ENST00000560968.5:c.758G>T
ENST00000615446.4:c.-257-2654G>T ENSP00000483994.1:n.-257-2654G>T
ENST00000617366.4:c.586+29G>T ENSP00000481967.1:n.586+29G>T
NM_000545.5:c.615G>T , LRG_522t1:c.615G>T NP_000536.5:p.Lys205Asn
NM_000545.6:c.615G>T NP_000536.5:p.Lys205Asn
NM_001306179.1:c.615G>T NP_001293108.1:p.Lys205Asn
XM_005253931.2:c.615G>T XP_005253988.1:p.Lys205Asn
XM_024449168.1:c.615G>T XP_024304936.1:p.Lys205Asn
NM_000545.8:c.615G>T MANE Select NP_000536.6:p.Lys205Asn
NM_001306179.2:c.615G>T NP_001293108.2:p.Lys205Asn