Canonical Allele Identifier: CA382900687

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 1068037
• ClinVar RCV Id: RCV001379469
• dbSNP Id: rs2134633880
• gnomAD v4: 11-119026690-T-C
• MyVariant Identifiers: chr11:g.118897400T>C (hg19) ; chr11:g.119026690T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026690T>C , CM000673.2:g.119026690T>C	GRCh38
NC_000011.9:g.118897400T>C , CM000673.1:g.118897400T>C	GRCh37
NC_000011.8:g.118402610T>C	NCBI36
NG_013331.1:g.9216A>G , LRG_187:g.9216A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1014+247A>G
ENST00000697845.1:n.1185A>G
ENST00000697846.1:n.1014+247A>G
ENST00000697847.1:n.1015-2A>G
ENST00000697848.1:n.1015-2A>G
ENST00000697849.1:n.2300A>G
ENST00000697850.1:n.1015-2A>G
ENST00000697851.1:n.2621A>G
ENST00000638186.1:n.1089-2A>G
ENST00000638360.1:n.921-2A>G
ENST00000638925.1:n.1022-2A>G
ENST00000650539.1:n.1191-2A>G
ENST00000330775.9:c.785-2A>G	ENSP00000476242.2:n.785-2A>G
ENST00000357590.9:c.785-2A>G	ENSP00000476176.2:n.785-2A>G
ENST00000524428.5:n.1106+247A>G
ENST00000525039.5:n.1209-2A>G
ENST00000525102.5:n.1543-2A>G
ENST00000525372.5:n.786-2A>G
ENST00000526275.5:n.1567-2A>G
ENST00000527992.5:n.1013-2A>G
ENST00000529510.5:n.558+247A>G
ENST00000530407.5:n.935-2A>G
ENST00000532085.1:n.3642A>G
ENST00000532888.6:n.1327A>G
ENST00000538950.5:c.566-2A>G	ENSP00000475991.2:n.566-2A>G
ENST00000545985.5:c.785-2A>G	ENSP00000475241.2:n.785-2A>G
NM_001164277.1:c.785-2A>G , LRG_187t1:c.785-2A>G	NP_001157749.1:n.785-2A>G
NM_001164278.1:c.785-2A>G	NP_001157750.1:n.785-2A>G
NM_001164279.1:c.566-2A>G	NP_001157751.1:n.566-2A>G
NM_001164280.1:c.785-2A>G	NP_001157752.1:n.785-2A>G
NM_001467.5:c.785-2A>G	NP_001458.1:n.785-2A>G
NM_001164278.2:c.785-2A>G	NP_001157750.1:n.785-2A>G
NM_001164279.2:c.566-2A>G	NP_001157751.1:n.566-2A>G
NM_001164280.2:c.785-2A>G	NP_001157752.1:n.785-2A>G
NM_001467.6:c.785-2A>G	NP_001458.1:n.785-2A>G
NM_001164277.2:c.785-2A>G MANE Select	NP_001157749.1:n.785-2A>G