Canonical Allele Identifier: CA382901060

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 1037192
• ClinVar RCV Id: RCV001340308
• dbSNP Id: rs1345697523
• gnomAD v2: 11-118897691-C-T
• gnomAD v4: 11-119026981-C-T
• MyVariant Identifiers: chr11:g.118897691C>T (hg19) ; chr11:g.119026981C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026981C>T , CM000673.2:g.119026981C>T	GRCh38
NC_000011.9:g.118897691C>T , CM000673.1:g.118897691C>T	GRCh37
NC_000011.8:g.118402901C>T	NCBI36
NG_013331.1:g.8925G>A , LRG_187:g.8925G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.970G>A
ENST00000697845.1:n.894G>A
ENST00000697846.1:n.970G>A
ENST00000697847.1:n.970G>A
ENST00000697848.1:n.970G>A
ENST00000697849.1:n.2009G>A
ENST00000697850.1:n.970G>A
ENST00000697851.1:n.2330G>A
ENST00000638186.1:n.1044G>A
ENST00000638360.1:n.876G>A
ENST00000638925.1:n.977G>A
ENST00000650539.1:n.1146G>A
ENST00000330775.9:c.740G>A	ENSP00000476242.2:p.Gly247Asp
ENST00000357590.9:c.740G>A	ENSP00000476176.2:p.Gly247Asp
ENST00000524428.5:n.1062G>A
ENST00000525039.5:n.1164G>A
ENST00000525102.5:n.1498G>A
ENST00000525372.5:n.741G>A
ENST00000526275.5:n.1522G>A
ENST00000526626.6:n.703G>A
ENST00000527992.5:n.968G>A
ENST00000529510.5:n.514G>A
ENST00000530407.5:n.890G>A
ENST00000532085.1:n.3351G>A
ENST00000532888.6:n.1036G>A
ENST00000538950.5:c.521G>A	ENSP00000475991.2:p.Gly174Asp
ENST00000545985.5:c.740G>A	ENSP00000475241.2:p.Gly247Asp
NM_001164277.1:c.740G>A , LRG_187t1:c.740G>A	NP_001157749.1:p.Gly247Asp
NM_001164278.1:c.740G>A	NP_001157750.1:p.Gly247Asp
NM_001164279.1:c.521G>A	NP_001157751.1:p.Gly174Asp
NM_001164280.1:c.740G>A	NP_001157752.1:p.Gly247Asp
NM_001467.5:c.740G>A	NP_001458.1:p.Gly247Asp
NM_001164278.2:c.740G>A	NP_001157750.1:p.Gly247Asp
NM_001164279.2:c.521G>A	NP_001157751.1:p.Gly174Asp
NM_001164280.2:c.740G>A	NP_001157752.1:p.Gly247Asp
NM_001467.6:c.740G>A	NP_001458.1:p.Gly247Asp
NM_001164277.2:c.740G>A MANE Select	NP_001157749.1:p.Gly247Asp