Canonical Allele Identifier: CA398745823

Gene: HNF1B

Linked Data

• MyVariant Identifiers: chr17:g.36091586C>G (hg19) ; chr17:g.37731595C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37731595C>G , CM000679.2:g.37731595C>G	GRCh38
NC_000017.10:g.36091586C>G , CM000679.1:g.36091586C>G	GRCh37
NC_000017.9:g.33165699C>G	NCBI36
NG_013019.2:g.18512G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000617811.5:c.1045G>C MANE Select	ENSP00000480291.1:p.Gly349Arg
ENST00000613727.4:c.967G>C	ENSP00000477524.1:p.Gly323Arg
ENST00000614313.4:c.1045G>C	ENSP00000482529.1:p.Gly349Arg
ENST00000617272.4:c.1045G>C	ENSP00000478682.1:p.Gly349Arg
ENST00000617811.4:c.1045G>C	ENSP00000480291.1:p.Gly349Arg
ENST00000618894.1:n.497G>C
ENST00000621123.4:c.967G>C	ENSP00000482711.1:p.Gly323Arg
NM_000458.3:c.1045G>C	NP_000449.1:p.Gly349Arg
NM_001165923.3:c.967G>C	NP_001159395.1:p.Gly323Arg
NM_001304286.1:c.967G>C	NP_001291215.1:p.Gly323Arg
XM_011525160.1:c.1045G>C	XP_011523462.1:p.Gly349Arg
XM_011525161.1:c.1045G>C	XP_011523463.1:p.Gly349Arg
XM_011525162.1:c.1045G>C	XP_011523464.1:p.Gly349Arg
XM_011525163.1:c.1045G>C	XP_011523465.1:p.Gly349Arg
XM_011525164.1:c.967G>C	XP_011523466.1:p.Gly323Arg
XM_011525162.2:c.1045G>C	XP_011523464.1:p.Gly349Arg
XM_011525163.2:c.1045G>C	XP_011523465.1:p.Gly349Arg
NM_000458.4:c.1045G>C MANE Select	NP_000449.1:p.Gly349Arg
NM_001165923.4:c.967G>C	NP_001159395.1:p.Gly323Arg
NM_001304286.2:c.967G>C	NP_001291215.1:p.Gly323Arg