Canonical Allele Identifier: CA10637767

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 302695
• ClinVar RCV Id: RCV000265891
• dbSNP Id: rs11006
• gnomAD v2: 11-118895202-A-G
• gnomAD v3: 11-119024492-A-G
• gnomAD v4: 11-119024492-A-G
• MyVariant Identifiers: chr11:g.118895202A>G (hg19) ; chr11:g.119024492A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119024492A>G , CM000673.2:g.119024492A>G	GRCh38
NC_000011.9:g.118895202A>G , CM000673.1:g.118895202A>G	GRCh37
NC_000011.8:g.118400412A>G	NCBI36
NG_013331.1:g.11414T>C , LRG_187:g.11414T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1918T>C (SLC37A4)
ENST00000697845.1:n.2907T>C (SLC37A4)
ENST00000697846.1:n.2280T>C (SLC37A4)
ENST00000697847.1:n.1991T>C (SLC37A4)
ENST00000697849.1:n.4384T>C (SLC37A4)
ENST00000697850.1:n.2575T>C (SLC37A4)
ENST00000697851.1:n.3546T>C (SLC37A4)
ENST00000638186.1:n.2012T>C (SLC37A4)
ENST00000638360.1:n.1844T>C (SLC37A4)
ENST00000638925.1:n.1977T>C (SLC37A4)
ENST00000650539.1:n.2180T>C (SLC37A4)
ENST00000330775.9:c.*418T>C (SLC37A4)	ENSP00000476242.2:n.*418T>C
ENST00000357590.9:c.*418T>C (SLC37A4)	ENSP00000476176.2:n.*418T>C
ENST00000525102.5:n.2466T>C (SLC37A4)
ENST00000526275.5:n.2490T>C (SLC37A4)
ENST00000527992.5:n.1936T>C (SLC37A4)
ENST00000532085.1:n.5726T>C (SLC37A4)
ENST00000533058.5:c.582-365A>G (TRAPPC4)	ENSP00000432920.1:n.582-365A>G
ENST00000538950.5:c.*418T>C (SLC37A4)	ENSP00000475991.2:n.*418T>C
ENST00000545985.5:c.*418T>C (SLC37A4)	ENSP00000475241.2:n.*418T>C
NM_001164277.1:c.*418T>C , LRG_187t1:c.*418T>C (SLC37A4)	NP_001157749.1:n.*418T>C
NM_001164278.1:c.*418T>C (SLC37A4)	NP_001157750.1:n.*418T>C
NM_001164279.1:c.*418T>C (SLC37A4)	NP_001157751.1:n.*418T>C
NM_001164280.1:c.*418T>C (SLC37A4)	NP_001157752.1:n.*418T>C
NM_001467.5:c.*418T>C (SLC37A4)	NP_001458.1:n.*418T>C
NM_001164278.2:c.*418T>C (SLC37A4)	NP_001157750.1:n.*418T>C
NM_001164279.2:c.*418T>C (SLC37A4)	NP_001157751.1:n.*418T>C
NM_001164280.2:c.*418T>C (SLC37A4)	NP_001157752.1:n.*418T>C
NM_001467.6:c.*418T>C (SLC37A4)	NP_001458.1:n.*418T>C
NM_001164277.2:c.*418T>C (SLC37A4) MANE Select	NP_001157749.1:n.*418T>C