Canonical Allele Identifier: CA10637798

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 302718
• ClinVar RCV Id: RCV000281378 ; RCV001612954
• dbSNP Id: rs2846281
• gnomAD v2: 11-118901166-C-G
• gnomAD v3: 11-119030456-C-G
• gnomAD v4: 11-119030456-C-G
• MyVariant Identifiers: chr11:g.118901166C>G (hg19) ; chr11:g.119030456C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119030456C>G , CM000673.2:g.119030456C>G	GRCh38
NC_000011.9:g.118901166C>G , CM000673.1:g.118901166C>G	GRCh37
NC_000011.8:g.118406376C>G	NCBI36
NG_013331.1:g.5451G>C , LRG_187:g.5451G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.34+393G>C
ENST00000697846.1:n.34+393G>C
ENST00000697847.1:n.34+393G>C
ENST00000697848.1:n.34+393G>C
ENST00000697850.1:n.34+393G>C
ENST00000638360.1:n.42+393G>C
ENST00000638925.1:n.41+393G>C
ENST00000330775.9:c.-196+393G>C	ENSP00000476242.2:n.-196+393G>C
ENST00000357590.9:c.-196+92G>C	ENSP00000476176.2:n.-196+92G>C
ENST00000525039.5:n.228+92G>C
ENST00000525102.5:n.338G>C
ENST00000527992.5:n.32+393G>C
ENST00000530407.5:n.24+393G>C
ENST00000532085.1:n.408G>C
ENST00000538950.5:c.-345+393G>C	ENSP00000475991.2:n.-345+393G>C
ENST00000545985.5:c.-420G>C	ENSP00000475241.2:n.-420G>C
NM_001164277.1:c.-420G>C , LRG_187t1:c.-420G>C	NP_001157749.1:n.-420G>C
NM_001164278.1:c.-196+92G>C	NP_001157750.1:n.-196+92G>C
NM_001164279.1:c.-345+393G>C	NP_001157751.1:n.-345+393G>C
NM_001467.5:c.-196+393G>C	NP_001458.1:n.-196+393G>C
NM_001164278.2:c.-196+92G>C	NP_001157750.1:n.-196+92G>C
NM_001164279.2:c.-345+393G>C	NP_001157751.1:n.-345+393G>C
NM_001467.6:c.-196+393G>C	NP_001458.1:n.-196+393G>C
NM_001164277.2:c.-420G>C MANE Select	NP_001157749.1:n.-420G>C