Canonical Allele Identifier: CA398750140

Gene: HNF1B

Linked Data

• MyVariant Identifiers: chr17:g.36047330A>G (hg19) ; chr17:g.37687327A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37687327A>G , CM000679.2:g.37687327A>G	GRCh38
NC_000017.10:g.36047330A>G , CM000679.1:g.36047330A>G	GRCh37
NC_000017.9:g.33121443A>G	NCBI36
NG_013019.2:g.62780T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617811.5:c.*45T>C MANE Select	ENSP00000480291.1:n.*45T>C
ENST00000613727.4:c.1327T>C	ENSP00000477524.1:p.Phe443Leu
ENST00000614313.4:c.1600T>C	ENSP00000482529.1:p.Phe534Leu
ENST00000617272.4:c.*323T>C	ENSP00000478682.1:n.*323T>C
ENST00000617811.4:c.*45T>C	ENSP00000480291.1:n.*45T>C
ENST00000621123.4:c.*45T>C	ENSP00000482711.1:n.*45T>C
NM_000458.3:c.*45T>C	NP_000449.1:n.*45T>C
NM_001165923.3:c.*45T>C	NP_001159395.1:n.*45T>C
NM_001304286.1:c.1327T>C	NP_001291215.1:p.Phe443Leu
XM_011525160.1:c.1600T>C	XP_011523462.1:p.Phe534Leu
XM_011525161.1:c.*45T>C	XP_011523463.1:n.*45T>C
XM_011525164.1:c.1522T>C	XP_011523466.1:p.Phe508Leu
XR_002958135.1:n.1591+81A>G
NM_000458.4:c.*45T>C MANE Select	NP_000449.1:n.*45T>C
NM_001165923.4:c.*45T>C	NP_001159395.1:n.*45T>C
NM_001304286.2:c.1327T>C	NP_001291215.1:p.Phe443Leu