Canonical Allele Identifier: CA382901003

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 1484818
• ClinVar RCV Id: RCV002008199
• dbSNP Id: rs2134634814
• MyVariant Identifiers: chr11:g.118897680G>C (hg19) ; chr11:g.119026970G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026970G>C , CM000673.2:g.119026970G>C	GRCh38
NC_000011.9:g.118897680G>C , CM000673.1:g.118897680G>C	GRCh37
NC_000011.8:g.118402890G>C	NCBI36
NG_013331.1:g.8936C>G , LRG_187:g.8936C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.981C>G
ENST00000697845.1:n.905C>G
ENST00000697846.1:n.981C>G
ENST00000697847.1:n.981C>G
ENST00000697848.1:n.981C>G
ENST00000697849.1:n.2020C>G
ENST00000697850.1:n.981C>G
ENST00000697851.1:n.2341C>G
ENST00000638186.1:n.1055C>G
ENST00000638360.1:n.887C>G
ENST00000638925.1:n.988C>G
ENST00000650539.1:n.1157C>G
ENST00000330775.9:c.751C>G	ENSP00000476242.2:p.Leu251Val
ENST00000357590.9:c.751C>G	ENSP00000476176.2:p.Leu251Val
ENST00000524428.5:n.1073C>G
ENST00000525039.5:n.1175C>G
ENST00000525102.5:n.1509C>G
ENST00000525372.5:n.752C>G
ENST00000526275.5:n.1533C>G
ENST00000526626.6:n.714C>G
ENST00000527992.5:n.979C>G
ENST00000529510.5:n.525C>G
ENST00000530407.5:n.901C>G
ENST00000532085.1:n.3362C>G
ENST00000532888.6:n.1047C>G
ENST00000538950.5:c.532C>G	ENSP00000475991.2:p.Leu178Val
ENST00000545985.5:c.751C>G	ENSP00000475241.2:p.Leu251Val
NM_001164277.1:c.751C>G , LRG_187t1:c.751C>G	NP_001157749.1:p.Leu251Val
NM_001164278.1:c.751C>G	NP_001157750.1:p.Leu251Val
NM_001164279.1:c.532C>G	NP_001157751.1:p.Leu178Val
NM_001164280.1:c.751C>G	NP_001157752.1:p.Leu251Val
NM_001467.5:c.751C>G	NP_001458.1:p.Leu251Val
NM_001164278.2:c.751C>G	NP_001157750.1:p.Leu251Val
NM_001164279.2:c.532C>G	NP_001157751.1:p.Leu178Val
NM_001164280.2:c.751C>G	NP_001157752.1:p.Leu251Val
NM_001467.6:c.751C>G	NP_001458.1:p.Leu251Val
NM_001164277.2:c.751C>G MANE Select	NP_001157749.1:p.Leu251Val