Canonical Allele Identifier: CA382903740

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 1388317
• ClinVar RCV Id: RCV001886618
• dbSNP Id: rs2134638252
• MyVariant Identifiers: chr11:g.118898544G>C (hg19) ; chr11:g.119027834G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027834G>C , CM000673.2:g.119027834G>C	GRCh38
NC_000011.9:g.118898544G>C , CM000673.1:g.118898544G>C	GRCh37
NC_000011.8:g.118403754G>C	NCBI36
NG_013331.1:g.8073C>G , LRG_187:g.8073C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.649C>G
ENST00000697845.1:n.573C>G
ENST00000697846.1:n.649C>G
ENST00000697847.1:n.649C>G
ENST00000697848.1:n.649C>G
ENST00000697849.1:n.1688C>G
ENST00000697850.1:n.649C>G
ENST00000697851.1:n.2009C>G
ENST00000638186.1:n.723C>G
ENST00000638360.1:n.619-64C>G
ENST00000638925.1:n.656C>G
ENST00000650539.1:n.825C>G
ENST00000330775.9:c.420C>G	ENSP00000476242.2:p.Ile140Met
ENST00000357590.9:c.420C>G	ENSP00000476176.2:p.Ile140Met
ENST00000524428.5:n.741C>G
ENST00000525039.5:n.843C>G
ENST00000525102.5:n.1177C>G
ENST00000525372.5:n.420C>G
ENST00000525787.1:n.1036C>G
ENST00000526275.5:n.1201C>G
ENST00000526626.6:n.382C>G
ENST00000527992.5:n.647C>G
ENST00000529510.5:n.399+360C>G
ENST00000530407.5:n.569C>G
ENST00000532085.1:n.3030C>G
ENST00000532888.6:n.715C>G
ENST00000538950.5:c.201C>G	ENSP00000475991.2:p.Ile67Met
ENST00000545985.5:c.420C>G	ENSP00000475241.2:p.Ile140Met
NM_001164277.1:c.420C>G , LRG_187t1:c.420C>G	NP_001157749.1:p.Ile140Met
NM_001164278.1:c.420C>G	NP_001157750.1:p.Ile140Met
NM_001164279.1:c.201C>G	NP_001157751.1:p.Ile67Met
NM_001164280.1:c.420C>G	NP_001157752.1:p.Ile140Met
NM_001467.5:c.420C>G	NP_001458.1:p.Ile140Met
NM_001164278.2:c.420C>G	NP_001157750.1:p.Ile140Met
NM_001164279.2:c.201C>G	NP_001157751.1:p.Ile67Met
NM_001164280.2:c.420C>G	NP_001157752.1:p.Ile140Met
NM_001467.6:c.420C>G	NP_001458.1:p.Ile140Met
NM_001164277.2:c.420C>G MANE Select	NP_001157749.1:p.Ile140Met