Canonical Allele Identifier: CA2258508268

Gene: HNF1B

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37692682G= , CM000679.2:g.37692682G=	GRCh38
NC_000017.10:g.36052692G= , CM000679.1:g.36052692G=	GRCh37
NC_000017.9:g.33126805G=	NCBI36
NG_013019.2:g.57425C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000458.4:c.1654-5290C= MANE Select	NP_000449.1:n.1654-5290C=
ENST00000617811.5:c.1654-5290C= MANE Select	ENSP00000480291.1:n.1654-5290C=
NM_000458.3:c.1654-5290C=	NP_000449.1:n.1654-5290C=
NM_001165923.3:c.1576-5290C=	NP_001159395.1:n.1576-5290C=
NM_001165923.4:c.1576-5290C=	NP_001159395.1:n.1576-5290C=
NM_001304286.1:c.1262-5290C=	NP_001291215.1:n.1262-5290C=
NM_001304286.2:c.1262-5290C=	NP_001291215.1:n.1262-5290C=
ENST00000613727.4:c.1262-5290C=	ENSP00000477524.1:n.1262-5290C=
ENST00000614313.4:c.1535-5290C=	ENSP00000482529.1:n.1535-5290C=
ENST00000617272.4:c.*258-5290C=	ENSP00000478682.1:n.*258-5290C=
ENST00000617811.4:c.1654-5290C=	ENSP00000480291.1:n.1654-5290C=
ENST00000621123.4:c.1576-5290C=	ENSP00000482711.1:n.1576-5290C=
XM_011525160.1:c.1535-5290C=	XP_011523462.1:n.1535-5290C=
XM_011525161.1:c.1459-5290C=	XP_011523463.1:n.1459-5290C=
XM_011525164.1:c.1457-5290C=	XP_011523466.1:n.1457-5290C=