Canonical Allele Identifier: CA290286738

Gene: HNF1B

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37687498G>A , CM000679.2:g.37687498G>A	GRCh38
NC_000017.10:g.36047501G>A , CM000679.1:g.36047501G>A	GRCh37
NC_000017.9:g.33121614G>A	NCBI36
NG_013019.2:g.62609C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000458.4:c.1654-106C>T MANE Select	NP_000449.1:n.1654-106C>T
ENST00000617811.5:c.1654-106C>T MANE Select	ENSP00000480291.1:n.1654-106C>T
NM_000458.3:c.1654-106C>T	NP_000449.1:n.1654-106C>T
NM_001165923.3:c.1576-106C>T	NP_001159395.1:n.1576-106C>T
NM_001165923.4:c.1576-106C>T	NP_001159395.1:n.1576-106C>T
NM_001304286.1:c.1262-106C>T	NP_001291215.1:n.1262-106C>T
NM_001304286.2:c.1262-106C>T	NP_001291215.1:n.1262-106C>T
ENST00000613727.4:c.1262-106C>T	ENSP00000477524.1:n.1262-106C>T
ENST00000614313.4:c.1535-106C>T	ENSP00000482529.1:n.1535-106C>T
ENST00000617272.4:c.*258-106C>T	ENSP00000478682.1:n.*258-106C>T
ENST00000617811.4:c.1654-106C>T	ENSP00000480291.1:n.1654-106C>T
ENST00000621123.4:c.1576-106C>T	ENSP00000482711.1:n.1576-106C>T
XM_011525160.1:c.1535-106C>T	XP_011523462.1:n.1535-106C>T
XM_011525161.1:c.1459-106C>T	XP_011523463.1:n.1459-106C>T
XM_011525164.1:c.1457-106C>T	XP_011523466.1:n.1457-106C>T
XR_002958135.1:n.1591+252G>A