Canonical Allele Identifier: CA229598150

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 663048
• ClinVar RCV Id: RCV000820831 ; RCV003141851
• dbSNP Id: rs373543021
• gnomAD v2: 11-118897644-T-C
• gnomAD v3: 11-119026934-T-C
• gnomAD v4: 11-119026934-T-C
• MyVariant Identifiers: chr11:g.118897644T>C (hg19) ; chr11:g.119026934T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026934T>C , CM000673.2:g.119026934T>C	GRCh38
NC_000011.9:g.118897644T>C , CM000673.1:g.118897644T>C	GRCh37
NC_000011.8:g.118402854T>C	NCBI36
NG_013331.1:g.8972A>G , LRG_187:g.8972A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1014+3A>G
ENST00000697845.1:n.941A>G
ENST00000697846.1:n.1014+3A>G
ENST00000697847.1:n.1014+3A>G
ENST00000697848.1:n.1014+3A>G
ENST00000697849.1:n.2056A>G
ENST00000697850.1:n.1014+3A>G
ENST00000697851.1:n.2377A>G
ENST00000638186.1:n.1088+3A>G
ENST00000638360.1:n.920+3A>G
ENST00000638925.1:n.1021+3A>G
ENST00000650539.1:n.1190+3A>G
ENST00000330775.9:c.784+3A>G	ENSP00000476242.2:n.784+3A>G
ENST00000357590.9:c.784+3A>G	ENSP00000476176.2:n.784+3A>G
ENST00000524428.5:n.1106+3A>G
ENST00000525039.5:n.1208+3A>G
ENST00000525102.5:n.1542+3A>G
ENST00000525372.5:n.785+3A>G
ENST00000526275.5:n.1566+3A>G
ENST00000527992.5:n.1012+3A>G
ENST00000529510.5:n.558+3A>G
ENST00000530407.5:n.934+3A>G
ENST00000532085.1:n.3398A>G
ENST00000532888.6:n.1083A>G
ENST00000538950.5:c.565+3A>G	ENSP00000475991.2:n.565+3A>G
ENST00000545985.5:c.784+3A>G	ENSP00000475241.2:n.784+3A>G
NM_001164277.1:c.784+3A>G , LRG_187t1:c.784+3A>G	NP_001157749.1:n.784+3A>G
NM_001164278.1:c.784+3A>G	NP_001157750.1:n.784+3A>G
NM_001164279.1:c.565+3A>G	NP_001157751.1:n.565+3A>G
NM_001164280.1:c.784+3A>G	NP_001157752.1:n.784+3A>G
NM_001467.5:c.784+3A>G	NP_001458.1:n.784+3A>G
NM_001164278.2:c.784+3A>G	NP_001157750.1:n.784+3A>G
NM_001164279.2:c.565+3A>G	NP_001157751.1:n.565+3A>G
NM_001164280.2:c.784+3A>G	NP_001157752.1:n.784+3A>G
NM_001467.6:c.784+3A>G	NP_001458.1:n.784+3A>G
NM_001164277.2:c.784+3A>G MANE Select	NP_001157749.1:n.784+3A>G