Canonical Allele Identifier: CA6311818

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 801370
• ClinVar RCV Id: RCV000986138 ; RCV001516166
• dbSNP Id: rs56966114
• ExAC: 11:118898435 AC / A
• gnomAD v2: 11-118898435-AC-A
• gnomAD v3: 11-119027725-AC-A
• gnomAD v4: 11-119027725-AC-A
• COSMIC: COSM5021224
• MyVariant Identifiers: chr11:g.118898436del (hg19) ; chr11:g.119027726del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027727del , CM000673.2:g.119027727del	GRCh38
NC_000011.9:g.118898437del , CM000673.1:g.118898437del	GRCh37
NC_000011.8:g.118403647del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.757del
ENST00000697845.1:n.681del
ENST00000697846.1:n.757del
ENST00000697847.1:n.757del
ENST00000697848.1:n.757del
ENST00000697849.1:n.1796del
ENST00000697850.1:n.757del
ENST00000697851.1:n.2117del
ENST00000638186.1:n.831del
ENST00000638360.1:n.663del
ENST00000638925.1:n.764del
ENST00000650539.1:n.933del
ENST00000330775.9:c.528del	ENSP00000476242.2:p.Val177TrpfsTer?
ENST00000357590.9:c.528del	ENSP00000476176.2:p.Val177TrpfsTer?
ENST00000524428.5:n.849del
ENST00000525039.5:n.951del
ENST00000525102.5:n.1285del
ENST00000525372.5:n.528del
ENST00000526275.5:n.1309del
ENST00000526626.6:n.490del
ENST00000527992.5:n.755del
ENST00000529510.5:n.399+468del
ENST00000530407.5:n.677del
ENST00000532085.1:n.3138del
ENST00000532888.6:n.823del
ENST00000538950.5:c.309del	ENSP00000475991.2:p.Val104TrpfsTer?
ENST00000545985.5:c.528del	ENSP00000475241.2:p.Val177TrpfsTer?