Canonical Allele Identifier: CA6311814

Gene: SLC37A4

Linked Data

• dbSNP Id: rs760217061
• ExAC: 11:118898420 G / C
• gnomAD v2: 11-118898420-G-C
• gnomAD v4: 11-119027710-G-C
• MyVariant Identifiers: chr11:g.118898420G>C (hg19) ; chr11:g.119027710G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027710G>C , CM000673.2:g.119027710G>C	GRCh38
NC_000011.9:g.118898420G>C , CM000673.1:g.118898420G>C	GRCh37
NC_000011.8:g.118403630G>C	NCBI36
NG_013331.1:g.8196C>G , LRG_187:g.8196C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.773C>G
ENST00000697845.1:n.697C>G
ENST00000697846.1:n.773C>G
ENST00000697847.1:n.773C>G
ENST00000697848.1:n.773C>G
ENST00000697849.1:n.1812C>G
ENST00000697850.1:n.773C>G
ENST00000697851.1:n.2133C>G
ENST00000638186.1:n.847C>G
ENST00000638360.1:n.679C>G
ENST00000638925.1:n.780C>G
ENST00000650539.1:n.949C>G
ENST00000330775.9:c.543C>G	ENSP00000476242.2:p.Phe181Leu
ENST00000357590.9:c.543C>G	ENSP00000476176.2:p.Phe181Leu
ENST00000524428.5:n.865C>G
ENST00000525039.5:n.967C>G
ENST00000525102.5:n.1301C>G
ENST00000525372.5:n.544C>G
ENST00000526275.5:n.1325C>G
ENST00000526626.6:n.506C>G
ENST00000527992.5:n.771C>G
ENST00000529510.5:n.399+484C>G
ENST00000530407.5:n.693C>G
ENST00000532085.1:n.3154C>G
ENST00000532888.6:n.839C>G
ENST00000538950.5:c.324C>G	ENSP00000475991.2:p.Phe108Leu
ENST00000545985.5:c.543C>G	ENSP00000475241.2:p.Phe181Leu
NM_001164277.1:c.543C>G , LRG_187t1:c.543C>G	NP_001157749.1:p.Phe181Leu
NM_001164278.1:c.543C>G	NP_001157750.1:p.Phe181Leu
NM_001164279.1:c.324C>G	NP_001157751.1:p.Phe108Leu
NM_001164280.1:c.543C>G	NP_001157752.1:p.Phe181Leu
NM_001467.5:c.543C>G	NP_001458.1:p.Phe181Leu
NM_001164278.2:c.543C>G	NP_001157750.1:p.Phe181Leu
NM_001164279.2:c.324C>G	NP_001157751.1:p.Phe108Leu
NM_001164280.2:c.543C>G	NP_001157752.1:p.Phe181Leu
NM_001467.6:c.543C>G	NP_001458.1:p.Phe181Leu
NM_001164277.2:c.543C>G MANE Select	NP_001157749.1:p.Phe181Leu