Canonical Allele Identifier: CA382901022

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 558365
• ClinVar RCV Id: RCV000674619
• dbSNP Id: rs782584884
• MyVariant Identifiers: chr11:g.118897684G>T (hg19) ; chr11:g.119026974G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026974G>T , CM000673.2:g.119026974G>T	GRCh38
NC_000011.9:g.118897684G>T , CM000673.1:g.118897684G>T	GRCh37
NC_000011.8:g.118402894G>T	NCBI36
NG_013331.1:g.8932C>A , LRG_187:g.8932C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.977C>A
ENST00000697845.1:n.901C>A
ENST00000697846.1:n.977C>A
ENST00000697847.1:n.977C>A
ENST00000697848.1:n.977C>A
ENST00000697849.1:n.2016C>A
ENST00000697850.1:n.977C>A
ENST00000697851.1:n.2337C>A
ENST00000638186.1:n.1051C>A
ENST00000638360.1:n.883C>A
ENST00000638925.1:n.984C>A
ENST00000650539.1:n.1153C>A
ENST00000330775.9:c.747C>A	ENSP00000476242.2:p.Phe249Leu
ENST00000357590.9:c.747C>A	ENSP00000476176.2:p.Phe249Leu
ENST00000524428.5:n.1069C>A
ENST00000525039.5:n.1171C>A
ENST00000525102.5:n.1505C>A
ENST00000525372.5:n.748C>A
ENST00000526275.5:n.1529C>A
ENST00000526626.6:n.710C>A
ENST00000527992.5:n.975C>A
ENST00000529510.5:n.521C>A
ENST00000530407.5:n.897C>A
ENST00000532085.1:n.3358C>A
ENST00000532888.6:n.1043C>A
ENST00000538950.5:c.528C>A	ENSP00000475991.2:p.Phe176Leu
ENST00000545985.5:c.747C>A	ENSP00000475241.2:p.Phe249Leu
NM_001164277.1:c.747C>A , LRG_187t1:c.747C>A	NP_001157749.1:p.Phe249Leu
NM_001164278.1:c.747C>A	NP_001157750.1:p.Phe249Leu
NM_001164279.1:c.528C>A	NP_001157751.1:p.Phe176Leu
NM_001164280.1:c.747C>A	NP_001157752.1:p.Phe249Leu
NM_001467.5:c.747C>A	NP_001458.1:p.Phe249Leu
NM_001164278.2:c.747C>A	NP_001157750.1:p.Phe249Leu
NM_001164279.2:c.528C>A	NP_001157751.1:p.Phe176Leu
NM_001164280.2:c.747C>A	NP_001157752.1:p.Phe249Leu
NM_001467.6:c.747C>A	NP_001458.1:p.Phe249Leu
NM_001164277.2:c.747C>A MANE Select	NP_001157749.1:p.Phe249Leu