Canonical Allele Identifier: CA382900314

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 554262
• ClinVar RCV Id: RCV000669863
• dbSNP Id: rs1226267943
• gnomAD v2: 11-118897360-C-T
• gnomAD v4: 11-119026650-C-T
• MyVariant Identifiers: chr11:g.118897360C>T (hg19) ; chr11:g.119026650C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026650C>T , CM000673.2:g.119026650C>T	GRCh38
NC_000011.9:g.118897360C>T , CM000673.1:g.118897360C>T	GRCh37
NC_000011.8:g.118402570C>T	NCBI36
NG_013331.1:g.9256G>A , LRG_187:g.9256G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1014+287G>A
ENST00000697845.1:n.1225G>A
ENST00000697846.1:n.1014+287G>A
ENST00000697847.1:n.1053G>A
ENST00000697848.1:n.1053G>A
ENST00000697849.1:n.2340G>A
ENST00000697850.1:n.1053G>A
ENST00000697851.1:n.2661G>A
ENST00000638186.1:n.1127G>A
ENST00000638360.1:n.959G>A
ENST00000638925.1:n.1060G>A
ENST00000650539.1:n.1229G>A
ENST00000330775.9:c.823G>A	ENSP00000476242.2:p.Val275Ile
ENST00000357590.9:c.823G>A	ENSP00000476176.2:p.Val275Ile
ENST00000524428.5:n.1106+287G>A
ENST00000525039.5:n.1247G>A
ENST00000525102.5:n.1581G>A
ENST00000525372.5:n.824G>A
ENST00000526275.5:n.1605G>A
ENST00000527992.5:n.1051G>A
ENST00000529510.5:n.558+287G>A
ENST00000530407.5:n.973G>A
ENST00000532085.1:n.3682G>A
ENST00000538950.5:c.604G>A	ENSP00000475991.2:p.Val202Ile
ENST00000545985.5:c.823G>A	ENSP00000475241.2:p.Val275Ile
NM_001164277.1:c.823G>A , LRG_187t1:c.823G>A	NP_001157749.1:p.Val275Ile
NM_001164278.1:c.823G>A	NP_001157750.1:p.Val275Ile
NM_001164279.1:c.604G>A	NP_001157751.1:p.Val202Ile
NM_001164280.1:c.823G>A	NP_001157752.1:p.Val275Ile
NM_001467.5:c.823G>A	NP_001458.1:p.Val275Ile
NM_001164278.2:c.823G>A	NP_001157750.1:p.Val275Ile
NM_001164279.2:c.604G>A	NP_001157751.1:p.Val202Ile
NM_001164280.2:c.823G>A	NP_001157752.1:p.Val275Ile
NM_001467.6:c.823G>A	NP_001458.1:p.Val275Ile
NM_001164277.2:c.823G>A MANE Select	NP_001157749.1:p.Val275Ile