Canonical Allele Identifier: CA219316

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 68279
• ClinVar RCV Id: RCV000059130 ; RCV001390447
• dbSNP Id: rs193302879
• ExAC: 11:118898521 G / A
• gnomAD v2: 11-118898521-G-A
• gnomAD v4: 11-119027811-G-A
• MyVariant Identifiers: chr11:g.118898521G>A (hg19) ; chr11:g.119027811G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027811G>A , CM000673.2:g.119027811G>A	GRCh38
NC_000011.9:g.118898521G>A , CM000673.1:g.118898521G>A	GRCh37
NC_000011.8:g.118403731G>A	NCBI36
NG_013331.1:g.8096C>T , LRG_187:g.8096C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.672C>T
ENST00000697845.1:n.596C>T
ENST00000697846.1:n.672C>T
ENST00000697847.1:n.672C>T
ENST00000697848.1:n.672C>T
ENST00000697849.1:n.1711C>T
ENST00000697850.1:n.672C>T
ENST00000697851.1:n.2032C>T
ENST00000638186.1:n.746C>T
ENST00000638360.1:n.619-41C>T
ENST00000638925.1:n.679C>T
ENST00000650539.1:n.848C>T
ENST00000330775.9:c.443C>T	ENSP00000476242.2:p.Ala148Val
ENST00000357590.9:c.443C>T	ENSP00000476176.2:p.Ala148Val
ENST00000524428.5:n.764C>T
ENST00000525039.5:n.866C>T
ENST00000525102.5:n.1200C>T
ENST00000525372.5:n.443C>T
ENST00000526275.5:n.1224C>T
ENST00000526626.6:n.405C>T
ENST00000527992.5:n.670C>T
ENST00000529510.5:n.399+383C>T
ENST00000530407.5:n.592C>T
ENST00000532085.1:n.3053C>T
ENST00000532888.6:n.738C>T
ENST00000538950.5:c.224C>T	ENSP00000475991.2:p.Ala75Val
ENST00000545985.5:c.443C>T	ENSP00000475241.2:p.Ala148Val
NM_001164277.1:c.443C>T , LRG_187t1:c.443C>T	NP_001157749.1:p.Ala148Val
NM_001164278.1:c.443C>T	NP_001157750.1:p.Ala148Val
NM_001164279.1:c.224C>T	NP_001157751.1:p.Ala75Val
NM_001164280.1:c.443C>T	NP_001157752.1:p.Ala148Val
NM_001467.5:c.443C>T	NP_001458.1:p.Ala148Val
NM_001164278.2:c.443C>T	NP_001157750.1:p.Ala148Val
NM_001164279.2:c.224C>T	NP_001157751.1:p.Ala75Val
NM_001164280.2:c.443C>T	NP_001157752.1:p.Ala148Val
NM_001467.6:c.443C>T	NP_001458.1:p.Ala148Val
NM_001164277.2:c.443C>T MANE Select	NP_001157749.1:p.Ala148Val