Canonical Allele Identifier: CA2581305114

Gene: HNF1B

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37720433T>G , CM000679.2:g.37720433T>G	GRCh38
NG_013019.2:g.29674A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000617811.5:c.1046-9770A>C MANE Select	ENSP00000480291.1:n.1046-9770A>C
ENST00000613727.4:c.968-9770A>C	ENSP00000477524.1:n.968-9770A>C
ENST00000614313.4:c.1046-9770A>C	ENSP00000482529.1:n.1046-9770A>C
ENST00000617272.4:c.1046-9770A>C	ENSP00000478682.1:n.1046-9770A>C
ENST00000617811.4:c.1046-9770A>C	ENSP00000480291.1:n.1046-9770A>C
ENST00000621123.4:c.968-9770A>C	ENSP00000482711.1:n.968-9770A>C
NM_000458.3:c.1046-9770A>C	NP_000449.1:n.1046-9770A>C
NM_001165923.3:c.968-9770A>C	NP_001159395.1:n.968-9770A>C
NM_001304286.1:c.968-9770A>C	NP_001291215.1:n.968-9770A>C
XM_011525160.1:c.1046-9770A>C	XP_011523462.1:n.1046-9770A>C
XM_011525161.1:c.1046-9770A>C	XP_011523463.1:n.1046-9770A>C
XM_011525164.1:c.968-9770A>C	XP_011523466.1:n.968-9770A>C
XR_934718.1:n.2236-3432T>G
XM_011525162.2:c.*414A>C	XP_011523464.1:n.*414A>C
XR_001752875.1:n.574+2947T>G
NM_000458.4:c.1046-9770A>C MANE Select	NP_000449.1:n.1046-9770A>C
NM_001165923.4:c.968-9770A>C	NP_001159395.1:n.968-9770A>C
NM_001304286.2:c.968-9770A>C	NP_001291215.1:n.968-9770A>C