Canonical Allele Identifier: CA10650002

Gene: HNF1B

Linked Data

• ClinVar Variation Id: 322937
• ClinVar RCV Id: RCV000331682 ; RCV002464179
• dbSNP Id: rs557216745
• gnomAD v2: 17-36046972-T-C
• gnomAD v3: 17-37686969-T-C
• gnomAD v4: 17-37686969-T-C
• MyVariant Identifiers: chr17:g.36046972T>C (hg19) ; chr17:g.37686969T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37686969T>C , CM000679.2:g.37686969T>C	GRCh38
NC_000017.10:g.36046972T>C , CM000679.1:g.36046972T>C	GRCh37
NC_000017.9:g.33121085T>C	NCBI36
NG_013019.2:g.63138A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617811.5:c.*403A>G MANE Select	ENSP00000480291.1:n.*403A>G
ENST00000617811.4:c.*403A>G	ENSP00000480291.1:n.*403A>G
NM_000458.3:c.*403A>G	NP_000449.1:n.*403A>G
NM_001165923.3:c.*403A>G	NP_001159395.1:n.*403A>G
NM_001304286.1:c.*311A>G	NP_001291215.1:n.*311A>G
XM_011525160.1:c.*311A>G	XP_011523462.1:n.*311A>G
XM_011525161.1:c.*403A>G	XP_011523463.1:n.*403A>G
XM_011525164.1:c.*311A>G	XP_011523466.1:n.*311A>G
XR_002958135.1:n.1314T>C
NM_000458.4:c.*403A>G MANE Select	NP_000449.1:n.*403A>G
NM_001165923.4:c.*403A>G	NP_001159395.1:n.*403A>G
NM_001304286.2:c.*311A>G	NP_001291215.1:n.*311A>G