Canonical Allele Identifier: CA324979

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 215179
• ClinVar RCV Id: RCV000200411 ; RCV001835723 ; RCV002492906
• dbSNP Id: rs782703235
• ExAC: 11:118896705 C / T
• gnomAD v2: 11-118896705-C-T
• gnomAD v3: 11-119025995-C-T
• gnomAD v4: 11-119025995-C-T
• MyVariant Identifiers: chr11:g.118896705C>T (hg19) ; chr11:g.119025995C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025995C>T , CM000673.2:g.119025995C>T	GRCh38
NC_000011.9:g.118896705C>T , CM000673.1:g.118896705C>T	GRCh37
NC_000011.8:g.118401915C>T	NCBI36
NG_013331.1:g.9911G>A , LRG_187:g.9911G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1100G>A
ENST00000697845.1:n.1880G>A
ENST00000697846.1:n.1100G>A
ENST00000697847.1:n.1202-238G>A
ENST00000697848.1:n.1186G>A
ENST00000697849.1:n.2995G>A
ENST00000697850.1:n.1186G>A
ENST00000697851.1:n.2794G>A
ENST00000638186.1:n.1260G>A
ENST00000638360.1:n.1092G>A
ENST00000638925.1:n.1225G>A
ENST00000650539.1:n.1362G>A
ENST00000330775.9:c.956G>A	ENSP00000476242.2:p.Arg319Gln
ENST00000357590.9:c.956G>A	ENSP00000476176.2:p.Arg319Gln
ENST00000524428.5:n.1192G>A
ENST00000525039.5:n.1380G>A
ENST00000525102.5:n.1714G>A
ENST00000525372.5:n.1054G>A
ENST00000526275.5:n.1738G>A
ENST00000527992.5:n.1184G>A
ENST00000529510.5:n.644G>A
ENST00000530407.5:n.1106G>A
ENST00000532085.1:n.4337G>A
ENST00000538950.5:c.737G>A	ENSP00000475991.2:p.Arg246Gln
ENST00000545985.5:c.956G>A	ENSP00000475241.2:p.Arg319Gln
NM_001164277.1:c.956G>A , LRG_187t1:c.956G>A	NP_001157749.1:p.Arg319Gln
NM_001164278.1:c.956G>A	NP_001157750.1:p.Arg319Gln
NM_001164279.1:c.737G>A	NP_001157751.1:p.Arg246Gln
NM_001164280.1:c.956G>A	NP_001157752.1:p.Arg319Gln
NM_001467.5:c.956G>A	NP_001458.1:p.Arg319Gln
NM_001164278.2:c.956G>A	NP_001157750.1:p.Arg319Gln
NM_001164279.2:c.737G>A	NP_001157751.1:p.Arg246Gln
NM_001164280.2:c.956G>A	NP_001157752.1:p.Arg319Gln
NM_001467.6:c.956G>A	NP_001458.1:p.Arg319Gln
NM_001164277.2:c.956G>A MANE Select	NP_001157749.1:p.Arg319Gln