Canonical Allele Identifier: CA16607573
Gene: HNF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 392411
dbSNP Id: rs1057524479

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.37699168G>A , CM000679.2:g.37699168G>A GRCh38
NC_000017.10:g.36059174G>A , CM000679.1:g.36059174G>A GRCh37
NC_000017.9:g.33133287G>A NCBI36
NG_013019.2:g.50939C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000617811.5:c.1561C>T MANE Select ENSP00000480291.1:p.Gln521Ter
ENST00000613727.4:c.1261+5749C>T ENSP00000477524.1:n.1261+5749C>T
ENST00000614313.4:c.1534+1815C>T ENSP00000482529.1:n.1534+1815C>T
ENST00000617272.4:c.*257+1815C>T ENSP00000478682.1:n.*257+1815C>T
ENST00000617811.4:c.1561C>T ENSP00000480291.1:p.Gln521Ter
ENST00000621123.4:c.1483C>T ENSP00000482711.1:p.Gln495Ter
NM_000458.3:c.1561C>T NP_000449.1:p.Gln521Ter
NM_001165923.3:c.1483C>T NP_001159395.1:p.Gln495Ter
NM_001304286.1:c.1261+5749C>T NP_001291215.1:n.1261+5749C>T
XM_011525160.1:c.1534+1815C>T XP_011523462.1:n.1534+1815C>T
XM_011525161.1:c.1366C>T XP_011523463.1:p.Gln456Ter
XM_011525164.1:c.1456+1815C>T XP_011523466.1:n.1456+1815C>T
NM_000458.4:c.1561C>T MANE Select NP_000449.1:p.Gln521Ter
NM_001165923.4:c.1483C>T NP_001159395.1:p.Gln495Ter
NM_001304286.2:c.1261+5749C>T NP_001291215.1:n.1261+5749C>T