Canonical Allele Identifier: CA2580606430

Gene: HNF1B

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37702453A>T , CM000679.2:g.37702453A>T	GRCh38
NG_013019.2:g.47654T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617811.5:c.1340-1276T>A MANE Select	ENSP00000480291.1:n.1340-1276T>A
ENST00000613727.4:c.1261+2464T>A	ENSP00000477524.1:n.1261+2464T>A
ENST00000614313.4:c.1340-1276T>A	ENSP00000482529.1:n.1340-1276T>A
ENST00000617272.4:c.*63-1276T>A	ENSP00000478682.1:n.*63-1276T>A
ENST00000617811.4:c.1340-1276T>A	ENSP00000480291.1:n.1340-1276T>A
ENST00000621123.4:c.1262-1276T>A	ENSP00000482711.1:n.1262-1276T>A
NM_000458.3:c.1340-1276T>A	NP_000449.1:n.1340-1276T>A
NM_001165923.3:c.1262-1276T>A	NP_001159395.1:n.1262-1276T>A
NM_001304286.1:c.1261+2464T>A	NP_001291215.1:n.1261+2464T>A
XM_011525160.1:c.1340-1276T>A	XP_011523462.1:n.1340-1276T>A
XM_011525161.1:c.1339+2464T>A	XP_011523463.1:n.1339+2464T>A
XM_011525164.1:c.1262-1276T>A	XP_011523466.1:n.1262-1276T>A
NM_000458.4:c.1340-1276T>A MANE Select	NP_000449.1:n.1340-1276T>A
NM_001165923.4:c.1262-1276T>A	NP_001159395.1:n.1262-1276T>A
NM_001304286.2:c.1261+2464T>A	NP_001291215.1:n.1261+2464T>A