Canonical Allele Identifier: CA382897760

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 551690
• ClinVar RCV Id: RCV000666817
• dbSNP Id: rs1555190738
• gnomAD v3: 11-119026028-A-G
• gnomAD v4: 11-119026028-A-G
• MyVariant Identifiers: chr11:g.118896738A>G (hg19) ; chr11:g.119026028A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026028A>G , CM000673.2:g.119026028A>G	GRCh38
NC_000011.9:g.118896738A>G , CM000673.1:g.118896738A>G	GRCh37
NC_000011.8:g.118401948A>G	NCBI36
NG_013331.1:g.9878T>C , LRG_187:g.9878T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1067T>C
ENST00000697845.1:n.1847T>C
ENST00000697846.1:n.1067T>C
ENST00000697847.1:n.1202-271T>C
ENST00000697848.1:n.1153T>C
ENST00000697849.1:n.2962T>C
ENST00000697850.1:n.1153T>C
ENST00000697851.1:n.2761T>C
ENST00000638186.1:n.1227T>C
ENST00000638360.1:n.1059T>C
ENST00000638925.1:n.1192T>C
ENST00000650539.1:n.1329T>C
ENST00000330775.9:c.923T>C	ENSP00000476242.2:p.Met308Thr
ENST00000357590.9:c.923T>C	ENSP00000476176.2:p.Met308Thr
ENST00000524428.5:n.1159T>C
ENST00000525039.5:n.1347T>C
ENST00000525102.5:n.1681T>C
ENST00000525372.5:n.1021T>C
ENST00000526275.5:n.1705T>C
ENST00000527992.5:n.1151T>C
ENST00000529510.5:n.611T>C
ENST00000530407.5:n.1073T>C
ENST00000532085.1:n.4304T>C
ENST00000538950.5:c.704T>C	ENSP00000475991.2:p.Met235Thr
ENST00000545985.5:c.923T>C	ENSP00000475241.2:p.Met308Thr
NM_001164277.1:c.923T>C , LRG_187t1:c.923T>C	NP_001157749.1:p.Met308Thr
NM_001164278.1:c.923T>C	NP_001157750.1:p.Met308Thr
NM_001164279.1:c.704T>C	NP_001157751.1:p.Met235Thr
NM_001164280.1:c.923T>C	NP_001157752.1:p.Met308Thr
NM_001467.5:c.923T>C	NP_001458.1:p.Met308Thr
NM_001164278.2:c.923T>C	NP_001157750.1:p.Met308Thr
NM_001164279.2:c.704T>C	NP_001157751.1:p.Met235Thr
NM_001164280.2:c.923T>C	NP_001157752.1:p.Met308Thr
NM_001467.6:c.923T>C	NP_001458.1:p.Met308Thr
NM_001164277.2:c.923T>C MANE Select	NP_001157749.1:p.Met308Thr