Canonical Allele Identifier: CA6311694

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 459625
• ClinVar RCV Id: RCV000524561 ; RCV001547830 ; RCV002377036 ; RCV003935410
• dbSNP Id: rs200147602
• ExAC: 11:118896789 G / A
• gnomAD v2: 11-118896789-G-A
• gnomAD v3: 11-119026079-G-A
• gnomAD v4: 11-119026079-G-A
• MyVariant Identifiers: chr11:g.118896789G>A (hg19) ; chr11:g.119026079G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026079G>A , CM000673.2:g.119026079G>A	GRCh38
NC_000011.9:g.118896789G>A , CM000673.1:g.118896789G>A	GRCh37
NC_000011.8:g.118401999G>A	NCBI36
NG_013331.1:g.9827C>T , LRG_187:g.9827C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1016C>T
ENST00000697845.1:n.1796C>T
ENST00000697846.1:n.1016C>T
ENST00000697847.1:n.1202-322C>T
ENST00000697848.1:n.1102C>T
ENST00000697849.1:n.2911C>T
ENST00000697850.1:n.1102C>T
ENST00000697851.1:n.2710C>T
ENST00000638186.1:n.1176C>T
ENST00000638360.1:n.1008C>T
ENST00000638925.1:n.1141C>T
ENST00000650539.1:n.1278C>T
ENST00000330775.9:c.872C>T	ENSP00000476242.2:p.Ala291Val
ENST00000357590.9:c.872C>T	ENSP00000476176.2:p.Ala291Val
ENST00000524428.5:n.1108C>T
ENST00000525039.5:n.1296C>T
ENST00000525102.5:n.1630C>T
ENST00000525372.5:n.970C>T
ENST00000526275.5:n.1654C>T
ENST00000527992.5:n.1100C>T
ENST00000529510.5:n.560C>T
ENST00000530407.5:n.1022C>T
ENST00000532085.1:n.4253C>T
ENST00000538950.5:c.653C>T	ENSP00000475991.2:p.Ala218Val
ENST00000545985.5:c.872C>T	ENSP00000475241.2:p.Ala291Val
NM_001164277.1:c.872C>T , LRG_187t1:c.872C>T	NP_001157749.1:p.Ala291Val
NM_001164278.1:c.872C>T	NP_001157750.1:p.Ala291Val
NM_001164279.1:c.653C>T	NP_001157751.1:p.Ala218Val
NM_001164280.1:c.872C>T	NP_001157752.1:p.Ala291Val
NM_001467.5:c.872C>T	NP_001458.1:p.Ala291Val
NM_001164278.2:c.872C>T	NP_001157750.1:p.Ala291Val
NM_001164279.2:c.653C>T	NP_001157751.1:p.Ala218Val
NM_001164280.2:c.872C>T	NP_001157752.1:p.Ala291Val
NM_001467.6:c.872C>T	NP_001458.1:p.Ala291Val
NM_001164277.2:c.872C>T MANE Select	NP_001157749.1:p.Ala291Val