Canonical Allele Identifier: CA8518750

Gene: HNF1B

Linked Data

• ClinVar Variation Id: 322943
• ClinVar RCV Id: RCV000343034 ; RCV000445437 ; RCV001613036
• dbSNP Id: rs8068014
• ExAC: 17:36047328 A / C
• gnomAD v2: 17-36047328-A-C
• gnomAD v3: 17-37687325-A-C
• gnomAD v4: 17-37687325-A-C
• MyVariant Identifiers: chr17:g.36047328A>C (hg19) ; chr17:g.37687325A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37687325A>C , CM000679.2:g.37687325A>C	GRCh38
NC_000017.10:g.36047328A>C , CM000679.1:g.36047328A>C	GRCh37
NC_000017.9:g.33121441A>C	NCBI36
NG_013019.2:g.62782T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617811.5:c.*47T>G MANE Select	ENSP00000480291.1:n.*47T>G
ENST00000613727.4:c.1329T>G	ENSP00000477524.1:p.Phe443Leu
ENST00000614313.4:c.1602T>G	ENSP00000482529.1:p.Phe534Leu
ENST00000617272.4:c.*325T>G	ENSP00000478682.1:n.*325T>G
ENST00000617811.4:c.*47T>G	ENSP00000480291.1:n.*47T>G
ENST00000621123.4:c.*47T>G	ENSP00000482711.1:n.*47T>G
NM_000458.3:c.*47T>G	NP_000449.1:n.*47T>G
NM_001165923.3:c.*47T>G	NP_001159395.1:n.*47T>G
NM_001304286.1:c.1329T>G	NP_001291215.1:p.Phe443Leu
XM_011525160.1:c.1602T>G	XP_011523462.1:p.Phe534Leu
XM_011525161.1:c.*47T>G	XP_011523463.1:n.*47T>G
XM_011525164.1:c.1524T>G	XP_011523466.1:p.Phe508Leu
XR_002958135.1:n.1591+79A>C
NM_000458.4:c.*47T>G MANE Select	NP_000449.1:n.*47T>G
NM_001165923.4:c.*47T>G	NP_001159395.1:n.*47T>G
NM_001304286.2:c.1329T>G	NP_001291215.1:p.Phe443Leu