Canonical Allele Identifier: CA229597311

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 751545
• ClinVar RCV Id: RCV000928621 ; RCV003933155
• dbSNP Id: rs974857648
• gnomAD v2: 11-118896788-C-T
• gnomAD v3: 11-119026078-C-T
• gnomAD v4: 11-119026078-C-T
• MyVariant Identifiers: chr11:g.118896788C>T (hg19) ; chr11:g.119026078C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026078C>T , CM000673.2:g.119026078C>T	GRCh38
NC_000011.9:g.118896788C>T , CM000673.1:g.118896788C>T	GRCh37
NC_000011.8:g.118401998C>T	NCBI36
NG_013331.1:g.9828G>A , LRG_187:g.9828G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1017G>A
ENST00000697845.1:n.1797G>A
ENST00000697846.1:n.1017G>A
ENST00000697847.1:n.1202-321G>A
ENST00000697848.1:n.1103G>A
ENST00000697849.1:n.2912G>A
ENST00000697850.1:n.1103G>A
ENST00000697851.1:n.2711G>A
ENST00000638186.1:n.1177G>A
ENST00000638360.1:n.1009G>A
ENST00000638925.1:n.1142G>A
ENST00000650539.1:n.1279G>A
ENST00000330775.9:c.873G>A	ENSP00000476242.2:p.Ala291=
ENST00000357590.9:c.873G>A	ENSP00000476176.2:p.Ala291=
ENST00000524428.5:n.1109G>A
ENST00000525039.5:n.1297G>A
ENST00000525102.5:n.1631G>A
ENST00000525372.5:n.971G>A
ENST00000526275.5:n.1655G>A
ENST00000527992.5:n.1101G>A
ENST00000529510.5:n.561G>A
ENST00000530407.5:n.1023G>A
ENST00000532085.1:n.4254G>A
ENST00000538950.5:c.654G>A	ENSP00000475991.2:p.Ala218=
ENST00000545985.5:c.873G>A	ENSP00000475241.2:p.Ala291=
NM_001164277.1:c.873G>A , LRG_187t1:c.873G>A	NP_001157749.1:p.Ala291=
NM_001164278.1:c.873G>A	NP_001157750.1:p.Ala291=
NM_001164279.1:c.654G>A	NP_001157751.1:p.Ala218=
NM_001164280.1:c.873G>A	NP_001157752.1:p.Ala291=
NM_001467.5:c.873G>A	NP_001458.1:p.Ala291=
NM_001164278.2:c.873G>A	NP_001157750.1:p.Ala291=
NM_001164279.2:c.654G>A	NP_001157751.1:p.Ala218=
NM_001164280.2:c.873G>A	NP_001157752.1:p.Ala291=
NM_001467.6:c.873G>A	NP_001458.1:p.Ala291=
NM_001164277.2:c.873G>A MANE Select	NP_001157749.1:p.Ala291=