Canonical Allele Identifier: CA2258515808

Gene: HNF1B

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37704931A= , CM000679.2:g.37704931A=	GRCh38
NC_000017.10:g.36064938A= , CM000679.1:g.36064938A=	GRCh37
NC_000017.9:g.33139051A=	NCBI36
NG_013019.2:g.45176T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000458.4:c.1325T= MANE Select	NP_000449.1:p.Met442=
ENST00000617811.5:c.1325T= MANE Select	ENSP00000480291.1:p.Met442=
NM_000458.3:c.1325T=	NP_000449.1:p.Met442=
NM_001165923.3:c.1247T=	NP_001159395.1:p.Met416=
NM_001165923.4:c.1247T=	NP_001159395.1:p.Met416=
NM_001304286.1:c.1247T=	NP_001291215.1:p.Met416=
NM_001304286.2:c.1247T=	NP_001291215.1:p.Met416=
ENST00000613727.4:c.1247T=	ENSP00000477524.1:p.Met416=
ENST00000614313.4:c.1325T=	ENSP00000482529.1:p.Met442=
ENST00000617272.4:c.*48T=	ENSP00000478682.1:n.*48T=
ENST00000617811.4:c.1325T=	ENSP00000480291.1:p.Met442=
ENST00000621123.4:c.1247T=	ENSP00000482711.1:p.Met416=
XM_011525160.1:c.1325T=	XP_011523462.1:p.Met442=
XM_011525161.1:c.1325T=	XP_011523463.1:p.Met442=
XM_011525164.1:c.1247T=	XP_011523466.1:p.Met416=
XR_001752877.1:n.1469+116A=