Canonical Allele Identifier: CA219322

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 68281
• ClinVar RCV Id: RCV002483116
• dbSNP Id: rs193302883
• gnomAD v2: 11-118898516-C-T
• gnomAD v3: 11-119027806-C-T
• gnomAD v4: 11-119027806-C-T
• MyVariant Identifiers: chr11:g.118898516C>T (hg19) ; chr11:g.119027806C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027806C>T , CM000673.2:g.119027806C>T	GRCh38
NC_000011.9:g.118898516C>T , CM000673.1:g.118898516C>T	GRCh37
NC_000011.8:g.118403726C>T	NCBI36
NG_013331.1:g.8101G>A , LRG_187:g.8101G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.677G>A
ENST00000697845.1:n.601G>A
ENST00000697846.1:n.677G>A
ENST00000697847.1:n.677G>A
ENST00000697848.1:n.677G>A
ENST00000697849.1:n.1716G>A
ENST00000697850.1:n.677G>A
ENST00000697851.1:n.2037G>A
ENST00000638186.1:n.751G>A
ENST00000638360.1:n.619-36G>A
ENST00000638925.1:n.684G>A
ENST00000650539.1:n.853G>A
ENST00000330775.9:c.448G>A	ENSP00000476242.2:p.Gly150Arg
ENST00000357590.9:c.448G>A	ENSP00000476176.2:p.Gly150Arg
ENST00000524428.5:n.769G>A
ENST00000525039.5:n.871G>A
ENST00000525102.5:n.1205G>A
ENST00000525372.5:n.448G>A
ENST00000526275.5:n.1229G>A
ENST00000526626.6:n.410G>A
ENST00000527992.5:n.675G>A
ENST00000529510.5:n.399+388G>A
ENST00000530407.5:n.597G>A
ENST00000532085.1:n.3058G>A
ENST00000532888.6:n.743G>A
ENST00000538950.5:c.229G>A	ENSP00000475991.2:p.Gly77Arg
ENST00000545985.5:c.448G>A	ENSP00000475241.2:p.Gly150Arg
NM_001164277.1:c.448G>A , LRG_187t1:c.448G>A	NP_001157749.1:p.Gly150Arg
NM_001164278.1:c.448G>A	NP_001157750.1:p.Gly150Arg
NM_001164279.1:c.229G>A	NP_001157751.1:p.Gly77Arg
NM_001164280.1:c.448G>A	NP_001157752.1:p.Gly150Arg
NM_001467.5:c.448G>A	NP_001458.1:p.Gly150Arg
NM_001164278.2:c.448G>A	NP_001157750.1:p.Gly150Arg
NM_001164279.2:c.229G>A	NP_001157751.1:p.Gly77Arg
NM_001164280.2:c.448G>A	NP_001157752.1:p.Gly150Arg
NM_001467.6:c.448G>A	NP_001458.1:p.Gly150Arg
NM_001164277.2:c.448G>A MANE Select	NP_001157749.1:p.Gly150Arg