Canonical Allele Identifier: CA382900287

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 1397113
• ClinVar RCV Id: RCV001887568
• dbSNP Id: rs2134633732
• MyVariant Identifiers: chr11:g.118897359A>C (hg19) ; chr11:g.119026649A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026649A>C , CM000673.2:g.119026649A>C	GRCh38
NC_000011.9:g.118897359A>C , CM000673.1:g.118897359A>C	GRCh37
NC_000011.8:g.118402569A>C	NCBI36
NG_013331.1:g.9257T>G , LRG_187:g.9257T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1014+288T>G
ENST00000697845.1:n.1226T>G
ENST00000697846.1:n.1014+288T>G
ENST00000697847.1:n.1054T>G
ENST00000697848.1:n.1054T>G
ENST00000697849.1:n.2341T>G
ENST00000697850.1:n.1054T>G
ENST00000697851.1:n.2662T>G
ENST00000638186.1:n.1128T>G
ENST00000638360.1:n.960T>G
ENST00000638925.1:n.1061T>G
ENST00000650539.1:n.1230T>G
ENST00000330775.9:c.824T>G	ENSP00000476242.2:p.Val275Gly
ENST00000357590.9:c.824T>G	ENSP00000476176.2:p.Val275Gly
ENST00000524428.5:n.1106+288T>G
ENST00000525039.5:n.1248T>G
ENST00000525102.5:n.1582T>G
ENST00000525372.5:n.825T>G
ENST00000526275.5:n.1606T>G
ENST00000527992.5:n.1052T>G
ENST00000529510.5:n.558+288T>G
ENST00000530407.5:n.974T>G
ENST00000532085.1:n.3683T>G
ENST00000538950.5:c.605T>G	ENSP00000475991.2:p.Val202Gly
ENST00000545985.5:c.824T>G	ENSP00000475241.2:p.Val275Gly
NM_001164277.1:c.824T>G , LRG_187t1:c.824T>G	NP_001157749.1:p.Val275Gly
NM_001164278.1:c.824T>G	NP_001157750.1:p.Val275Gly
NM_001164279.1:c.605T>G	NP_001157751.1:p.Val202Gly
NM_001164280.1:c.824T>G	NP_001157752.1:p.Val275Gly
NM_001467.5:c.824T>G	NP_001458.1:p.Val275Gly
NM_001164278.2:c.824T>G	NP_001157750.1:p.Val275Gly
NM_001164279.2:c.605T>G	NP_001157751.1:p.Val202Gly
NM_001164280.2:c.824T>G	NP_001157752.1:p.Val275Gly
NM_001467.6:c.824T>G	NP_001458.1:p.Val275Gly
NM_001164277.2:c.824T>G MANE Select	NP_001157749.1:p.Val275Gly