Canonical Allele Identifier: CA2258513347

Gene: HNF1B

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37699209T>A , CM000679.2:g.37699209T>A	GRCh38
NC_000017.10:g.36059215T>A , CM000679.1:g.36059215T>A	GRCh37
NC_000017.9:g.33133328T>A	NCBI36
NG_013019.2:g.50898A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617811.5:c.1535-15A>T MANE Select	ENSP00000480291.1:n.1535-15A>T
ENST00000613727.4:c.1261+5708A>T	ENSP00000477524.1:n.1261+5708A>T
ENST00000614313.4:c.1534+1774A>T	ENSP00000482529.1:n.1534+1774A>T
ENST00000617272.4:c.*257+1774A>T	ENSP00000478682.1:n.*257+1774A>T
ENST00000617811.4:c.1535-15A>T	ENSP00000480291.1:n.1535-15A>T
ENST00000621123.4:c.1457-15A>T	ENSP00000482711.1:n.1457-15A>T
NM_000458.3:c.1535-15A>T	NP_000449.1:n.1535-15A>T
NM_001165923.3:c.1457-15A>T	NP_001159395.1:n.1457-15A>T
NM_001304286.1:c.1261+5708A>T	NP_001291215.1:n.1261+5708A>T
XM_011525160.1:c.1534+1774A>T	XP_011523462.1:n.1534+1774A>T
XM_011525161.1:c.1340-15A>T	XP_011523463.1:n.1340-15A>T
XM_011525164.1:c.1456+1774A>T	XP_011523466.1:n.1456+1774A>T
NM_000458.4:c.1535-15A>T MANE Select	NP_000449.1:n.1535-15A>T
NM_001165923.4:c.1457-15A>T	NP_001159395.1:n.1457-15A>T
NM_001304286.2:c.1261+5708A>T	NP_001291215.1:n.1261+5708A>T