Canonical Allele Identifier: CA13450218

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 1292093
• ClinVar RCV Id: RCV001716999
• dbSNP Id: rs2276071
• gnomAD v2: 11-118896116-A-C
• gnomAD v3: 11-119025406-A-C
• gnomAD v4: 11-119025406-A-C
• MyVariant Identifiers: chr11:g.118896116A>C (hg19) ; chr11:g.119025406A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025406A>C , CM000673.2:g.119025406A>C	GRCh38
NC_000011.9:g.118896116A>C , CM000673.1:g.118896116A>C	GRCh37
NC_000011.8:g.118401326A>C	NCBI36
NG_013331.1:g.10500T>G , LRG_187:g.10500T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1195-77T>G (SLC37A4)
ENST00000697845.1:n.2184-77T>G (SLC37A4)
ENST00000697846.1:n.1480T>G (SLC37A4)
ENST00000697847.1:n.1268-77T>G (SLC37A4)
ENST00000697849.1:n.3584T>G (SLC37A4)
ENST00000697850.1:n.1775T>G (SLC37A4)
ENST00000697851.1:n.2823-77T>G (SLC37A4)
ENST00000638186.1:n.1289-77T>G (SLC37A4)
ENST00000638360.1:n.1121-77T>G (SLC37A4)
ENST00000638925.1:n.1254-77T>G (SLC37A4)
ENST00000650539.1:n.1457-77T>G (SLC37A4)
ENST00000330775.9:c.985-77T>G (SLC37A4)	ENSP00000476242.2:n.985-77T>G
ENST00000357590.9:c.1051-77T>G (SLC37A4)	ENSP00000476176.2:n.1051-77T>G
ENST00000524428.5:n.1221-77T>G (SLC37A4)
ENST00000525039.5:n.1475-77T>G (SLC37A4)
ENST00000525102.5:n.1743-77T>G (SLC37A4)
ENST00000525372.5:n.1083-77T>G (SLC37A4)
ENST00000526275.5:n.1767-77T>G (SLC37A4)
ENST00000527992.5:n.1213-77T>G (SLC37A4)
ENST00000529510.5:n.673-77T>G (SLC37A4)
ENST00000530407.5:n.1135-77T>G (SLC37A4)
ENST00000532085.1:n.4926T>G (SLC37A4)
ENST00000533058.5:c.*357A>C (TRAPPC4)	ENSP00000432920.1:n.*357A>C
ENST00000538950.5:c.766-77T>G (SLC37A4)	ENSP00000475991.2:n.766-77T>G
ENST00000545985.5:c.985-77T>G (SLC37A4)	ENSP00000475241.2:n.985-77T>G
NM_001164277.1:c.985-77T>G , LRG_187t1:c.985-77T>G (SLC37A4)	NP_001157749.1:n.985-77T>G
NM_001164278.1:c.1051-77T>G (SLC37A4)	NP_001157750.1:n.1051-77T>G
NM_001164279.1:c.766-77T>G (SLC37A4)	NP_001157751.1:n.766-77T>G
NM_001164280.1:c.985-77T>G (SLC37A4)	NP_001157752.1:n.985-77T>G
NM_001467.5:c.985-77T>G (SLC37A4)	NP_001458.1:n.985-77T>G
NM_001164278.2:c.1051-77T>G (SLC37A4)	NP_001157750.1:n.1051-77T>G
NM_001164279.2:c.766-77T>G (SLC37A4)	NP_001157751.1:n.766-77T>G
NM_001164280.2:c.985-77T>G (SLC37A4)	NP_001157752.1:n.985-77T>G
NM_001467.6:c.985-77T>G (SLC37A4)	NP_001458.1:n.985-77T>G
NM_001164277.2:c.985-77T>G (SLC37A4) MANE Select	NP_001157749.1:n.985-77T>G