Canonical Allele Identifier: CA10637800

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 302719
• ClinVar RCV Id: RCV000372332
• dbSNP Id: rs550169691
• gnomAD v2: 11-118901319-G-C
• gnomAD v3: 11-119030609-G-C
• gnomAD v4: 11-119030609-G-C
• MyVariant Identifiers: chr11:g.118901319G>C (hg19) ; chr11:g.119030609G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119030609G>C , CM000673.2:g.119030609G>C	GRCh38
NC_000011.9:g.118901319G>C , CM000673.1:g.118901319G>C	GRCh37
NC_000011.8:g.118406529G>C	NCBI36
NG_013331.1:g.5298C>G , LRG_187:g.5298C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.34+240C>G
ENST00000697846.1:n.34+240C>G
ENST00000697847.1:n.34+240C>G
ENST00000697848.1:n.34+240C>G
ENST00000697850.1:n.34+240C>G
ENST00000638360.1:n.42+240C>G
ENST00000638925.1:n.41+240C>G
ENST00000330775.9:c.-196+240C>G	ENSP00000476242.2:n.-196+240C>G
ENST00000357590.9:c.-257C>G	ENSP00000476176.2:n.-257C>G
ENST00000525039.5:n.167C>G
ENST00000525102.5:n.185C>G
ENST00000527992.5:n.32+240C>G
ENST00000530407.5:n.24+240C>G
ENST00000532085.1:n.255C>G
ENST00000538950.5:c.-345+240C>G	ENSP00000475991.2:n.-345+240C>G
ENST00000545985.5:c.-573C>G	ENSP00000475241.2:n.-573C>G
NM_001164277.1:c.-573C>G , LRG_187t1:c.-573C>G	NP_001157749.1:n.-573C>G
NM_001164278.1:c.-257C>G	NP_001157750.1:n.-257C>G
NM_001164279.1:c.-345+240C>G	NP_001157751.1:n.-345+240C>G
NM_001467.5:c.-196+240C>G	NP_001458.1:n.-196+240C>G
NM_001164278.2:c.-257C>G	NP_001157750.1:n.-257C>G
NM_001164279.2:c.-345+240C>G	NP_001157751.1:n.-345+240C>G
NM_001467.6:c.-196+240C>G	NP_001458.1:n.-196+240C>G
NM_001164277.2:c.-573C>G MANE Select	NP_001157749.1:n.-573C>G