Canonical Allele Identifier: CA382901194

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2202158
• ClinVar RCV Id: RCV002647850
• dbSNP Id: rs1178886617
• gnomAD v3: 11-119026997-A-C
• gnomAD v4: 11-119026997-A-C
• MyVariant Identifiers: chr11:g.118897707A>C (hg19) ; chr11:g.119026997A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026997A>C , CM000673.2:g.119026997A>C	GRCh38
NC_000011.9:g.118897707A>C , CM000673.1:g.118897707A>C	GRCh37
NC_000011.8:g.118402917A>C	NCBI36
NG_013331.1:g.8909T>G , LRG_187:g.8909T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.954T>G
ENST00000697845.1:n.878T>G
ENST00000697846.1:n.954T>G
ENST00000697847.1:n.954T>G
ENST00000697848.1:n.954T>G
ENST00000697849.1:n.1993T>G
ENST00000697850.1:n.954T>G
ENST00000697851.1:n.2314T>G
ENST00000638186.1:n.1028T>G
ENST00000638360.1:n.860T>G
ENST00000638925.1:n.961T>G
ENST00000650539.1:n.1130T>G
ENST00000330775.9:c.724T>G	ENSP00000476242.2:p.Cys242Gly
ENST00000357590.9:c.724T>G	ENSP00000476176.2:p.Cys242Gly
ENST00000524428.5:n.1046T>G
ENST00000525039.5:n.1148T>G
ENST00000525102.5:n.1482T>G
ENST00000525372.5:n.725T>G
ENST00000526275.5:n.1506T>G
ENST00000526626.6:n.687T>G
ENST00000527992.5:n.952T>G
ENST00000529510.5:n.498T>G
ENST00000530407.5:n.874T>G
ENST00000532085.1:n.3335T>G
ENST00000532888.6:n.1020T>G
ENST00000538950.5:c.505T>G	ENSP00000475991.2:p.Cys169Gly
ENST00000545985.5:c.724T>G	ENSP00000475241.2:p.Cys242Gly
NM_001164277.1:c.724T>G , LRG_187t1:c.724T>G	NP_001157749.1:p.Cys242Gly
NM_001164278.1:c.724T>G	NP_001157750.1:p.Cys242Gly
NM_001164279.1:c.505T>G	NP_001157751.1:p.Cys169Gly
NM_001164280.1:c.724T>G	NP_001157752.1:p.Cys242Gly
NM_001467.5:c.724T>G	NP_001458.1:p.Cys242Gly
NM_001164278.2:c.724T>G	NP_001157750.1:p.Cys242Gly
NM_001164279.2:c.505T>G	NP_001157751.1:p.Cys169Gly
NM_001164280.2:c.724T>G	NP_001157752.1:p.Cys242Gly
NM_001467.6:c.724T>G	NP_001458.1:p.Cys242Gly
NM_001164277.2:c.724T>G MANE Select	NP_001157749.1:p.Cys242Gly