Canonical Allele Identifier: CA219319

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 68280
• ClinVar RCV Id: RCV000059131 ; RCV001204831
• dbSNP Id: rs193302892
• ExAC: 11:118898518 C / T
• gnomAD v2: 11-118898518-C-T
• gnomAD v4: 11-119027808-C-T
• MyVariant Identifiers: chr11:g.118898518C>T (hg19) ; chr11:g.119027808C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027808C>T , CM000673.2:g.119027808C>T	GRCh38
NC_000011.9:g.118898518C>T , CM000673.1:g.118898518C>T	GRCh37
NC_000011.8:g.118403728C>T	NCBI36
NG_013331.1:g.8099G>A , LRG_187:g.8099G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.675G>A
ENST00000697845.1:n.599G>A
ENST00000697846.1:n.675G>A
ENST00000697847.1:n.675G>A
ENST00000697848.1:n.675G>A
ENST00000697849.1:n.1714G>A
ENST00000697850.1:n.675G>A
ENST00000697851.1:n.2035G>A
ENST00000638186.1:n.749G>A
ENST00000638360.1:n.619-38G>A
ENST00000638925.1:n.682G>A
ENST00000650539.1:n.851G>A
ENST00000330775.9:c.446G>A	ENSP00000476242.2:p.Gly149Glu
ENST00000357590.9:c.446G>A	ENSP00000476176.2:p.Gly149Glu
ENST00000524428.5:n.767G>A
ENST00000525039.5:n.869G>A
ENST00000525102.5:n.1203G>A
ENST00000525372.5:n.446G>A
ENST00000526275.5:n.1227G>A
ENST00000526626.6:n.408G>A
ENST00000527992.5:n.673G>A
ENST00000529510.5:n.399+386G>A
ENST00000530407.5:n.595G>A
ENST00000532085.1:n.3056G>A
ENST00000532888.6:n.741G>A
ENST00000538950.5:c.227G>A	ENSP00000475991.2:p.Gly76Glu
ENST00000545985.5:c.446G>A	ENSP00000475241.2:p.Gly149Glu
NM_001164277.1:c.446G>A , LRG_187t1:c.446G>A	NP_001157749.1:p.Gly149Glu
NM_001164278.1:c.446G>A	NP_001157750.1:p.Gly149Glu
NM_001164279.1:c.227G>A	NP_001157751.1:p.Gly76Glu
NM_001164280.1:c.446G>A	NP_001157752.1:p.Gly149Glu
NM_001467.5:c.446G>A	NP_001458.1:p.Gly149Glu
NM_001164278.2:c.446G>A	NP_001157750.1:p.Gly149Glu
NM_001164279.2:c.227G>A	NP_001157751.1:p.Gly76Glu
NM_001164280.2:c.446G>A	NP_001157752.1:p.Gly149Glu
NM_001467.6:c.446G>A	NP_001458.1:p.Gly149Glu
NM_001164277.2:c.446G>A MANE Select	NP_001157749.1:p.Gly149Glu