Canonical Allele Identifier: CA8518742

Gene: HNF1B

Linked Data

• ClinVar Variation Id: 322942
• ClinVar RCV Id: RCV000288118 ; RCV002464181
• dbSNP Id: rs762266343
• ExAC: 17:36047287 T / C
• gnomAD v2: 17-36047287-T-C
• gnomAD v3: 17-37687284-T-C
• gnomAD v4: 17-37687284-T-C
• MyVariant Identifiers: chr17:g.36047287T>C (hg19) ; chr17:g.37687284T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37687284T>C , CM000679.2:g.37687284T>C	GRCh38
NC_000017.10:g.36047287T>C , CM000679.1:g.36047287T>C	GRCh37
NC_000017.9:g.33121400T>C	NCBI36
NG_013019.2:g.62823A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617811.5:c.*88A>G MANE Select	ENSP00000480291.1:n.*88A>G
ENST00000613727.4:c.1370A>G	ENSP00000477524.1:p.Gln457Arg
ENST00000614313.4:c.1643A>G	ENSP00000482529.1:p.Gln548Arg
ENST00000617272.4:c.*366A>G	ENSP00000478682.1:n.*366A>G
ENST00000617811.4:c.*88A>G	ENSP00000480291.1:n.*88A>G
ENST00000621123.4:c.*88A>G	ENSP00000482711.1:n.*88A>G
NM_000458.3:c.*88A>G	NP_000449.1:n.*88A>G
NM_001165923.3:c.*88A>G	NP_001159395.1:n.*88A>G
NM_001304286.1:c.1370A>G	NP_001291215.1:p.Gln457Arg
XM_011525160.1:c.1643A>G	XP_011523462.1:p.Gln548Arg
XM_011525161.1:c.*88A>G	XP_011523463.1:n.*88A>G
XM_011525164.1:c.1565A>G	XP_011523466.1:p.Gln522Arg
XR_002958135.1:n.1591+38T>C
NM_000458.4:c.*88A>G MANE Select	NP_000449.1:n.*88A>G
NM_001165923.4:c.*88A>G	NP_001159395.1:n.*88A>G
NM_001304286.2:c.1370A>G	NP_001291215.1:p.Gln457Arg