Canonical Allele Identifier: CA382902178

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 1364388
• ClinVar RCV Id: RCV001905370
• dbSNP Id: rs1943614259
• gnomAD v4: 11-119027696-A-T
• MyVariant Identifiers: chr11:g.118898406A>T (hg19) ; chr11:g.119027696A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027696A>T , CM000673.2:g.119027696A>T	GRCh38
NC_000011.9:g.118898406A>T , CM000673.1:g.118898406A>T	GRCh37
NC_000011.8:g.118403616A>T	NCBI36
NG_013331.1:g.8210T>A , LRG_187:g.8210T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.787T>A
ENST00000697845.1:n.711T>A
ENST00000697846.1:n.787T>A
ENST00000697847.1:n.787T>A
ENST00000697848.1:n.787T>A
ENST00000697849.1:n.1826T>A
ENST00000697850.1:n.787T>A
ENST00000697851.1:n.2147T>A
ENST00000638186.1:n.861T>A
ENST00000638360.1:n.693T>A
ENST00000638925.1:n.794T>A
ENST00000650539.1:n.963T>A
ENST00000330775.9:c.557T>A	ENSP00000476242.2:p.Leu186His
ENST00000357590.9:c.557T>A	ENSP00000476176.2:p.Leu186His
ENST00000524428.5:n.879T>A
ENST00000525039.5:n.981T>A
ENST00000525102.5:n.1315T>A
ENST00000525372.5:n.558T>A
ENST00000526275.5:n.1339T>A
ENST00000526626.6:n.520T>A
ENST00000527992.5:n.785T>A
ENST00000529510.5:n.399+498T>A
ENST00000530407.5:n.707T>A
ENST00000532085.1:n.3168T>A
ENST00000532888.6:n.853T>A
ENST00000538950.5:c.338T>A	ENSP00000475991.2:p.Leu113His
ENST00000545985.5:c.557T>A	ENSP00000475241.2:p.Leu186His
NM_001164277.1:c.557T>A , LRG_187t1:c.557T>A	NP_001157749.1:p.Leu186His
NM_001164278.1:c.557T>A	NP_001157750.1:p.Leu186His
NM_001164279.1:c.338T>A	NP_001157751.1:p.Leu113His
NM_001164280.1:c.557T>A	NP_001157752.1:p.Leu186His
NM_001467.5:c.557T>A	NP_001458.1:p.Leu186His
NM_001164278.2:c.557T>A	NP_001157750.1:p.Leu186His
NM_001164279.2:c.338T>A	NP_001157751.1:p.Leu113His
NM_001164280.2:c.557T>A	NP_001157752.1:p.Leu186His
NM_001467.6:c.557T>A	NP_001458.1:p.Leu186His
NM_001164277.2:c.557T>A MANE Select	NP_001157749.1:p.Leu186His