Canonical Allele Identifier: CA229599061

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 1746276
• ClinVar RCV Id: RCV002340888 ; RCV003617978
• dbSNP Id: rs1012680275
• gnomAD v3: 11-119027731-G-C
• gnomAD v4: 11-119027731-G-C
• MyVariant Identifiers: chr11:g.118898441G>C (hg19) ; chr11:g.119027731G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027731G>C , CM000673.2:g.119027731G>C	GRCh38
NC_000011.9:g.118898441G>C , CM000673.1:g.118898441G>C	GRCh37
NC_000011.8:g.118403651G>C	NCBI36
NG_013331.1:g.8176C>G , LRG_187:g.8176C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.752C>G
ENST00000697845.1:n.676C>G
ENST00000697846.1:n.752C>G
ENST00000697847.1:n.752C>G
ENST00000697848.1:n.752C>G
ENST00000697849.1:n.1791C>G
ENST00000697850.1:n.752C>G
ENST00000697851.1:n.2112C>G
ENST00000638186.1:n.826C>G
ENST00000638360.1:n.658C>G
ENST00000638925.1:n.759C>G
ENST00000650539.1:n.928C>G
ENST00000330775.9:c.523C>G	ENSP00000476242.2:p.Leu175Val
ENST00000357590.9:c.523C>G	ENSP00000476176.2:p.Leu175Val
ENST00000524428.5:n.844C>G
ENST00000525039.5:n.946C>G
ENST00000525102.5:n.1280C>G
ENST00000525372.5:n.523C>G
ENST00000526275.5:n.1304C>G
ENST00000526626.6:n.485C>G
ENST00000527992.5:n.750C>G
ENST00000529510.5:n.399+463C>G
ENST00000530407.5:n.672C>G
ENST00000532085.1:n.3133C>G
ENST00000532888.6:n.818C>G
ENST00000538950.5:c.304C>G	ENSP00000475991.2:p.Leu102Val
ENST00000545985.5:c.523C>G	ENSP00000475241.2:p.Leu175Val
NM_001164277.1:c.523C>G , LRG_187t1:c.523C>G	NP_001157749.1:p.Leu175Val
NM_001164278.1:c.523C>G	NP_001157750.1:p.Leu175Val
NM_001164279.1:c.304C>G	NP_001157751.1:p.Leu102Val
NM_001164280.1:c.523C>G	NP_001157752.1:p.Leu175Val
NM_001467.5:c.523C>G	NP_001458.1:p.Leu175Val
NM_001164278.2:c.523C>G	NP_001157750.1:p.Leu175Val
NM_001164279.2:c.304C>G	NP_001157751.1:p.Leu102Val
NM_001164280.2:c.523C>G	NP_001157752.1:p.Leu175Val
NM_001467.6:c.523C>G	NP_001458.1:p.Leu175Val
NM_001164277.2:c.523C>G MANE Select	NP_001157749.1:p.Leu175Val