Canonical Allele Identifier: CA602577611

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 2791231
• ClinVar RCV Id: RCV003618221
• dbSNP Id: rs1416069452
• gnomAD v2: 11-118895790-T-C
• gnomAD v4: 11-119025080-T-C
• MyVariant Identifiers: chr11:g.118895790T>C (hg19) ; chr11:g.119025080T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025080T>C , CM000673.2:g.119025080T>C	GRCh38
NC_000011.9:g.118895790T>C , CM000673.1:g.118895790T>C	GRCh37
NC_000011.8:g.118401000T>C	NCBI36
NG_013331.1:g.10826A>G , LRG_187:g.10826A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1334-4A>G (SLC37A4)
ENST00000697845.1:n.2323-4A>G (SLC37A4)
ENST00000697846.1:n.1696-4A>G (SLC37A4)
ENST00000697847.1:n.1407-4A>G (SLC37A4)
ENST00000697849.1:n.3800-4A>G (SLC37A4)
ENST00000697850.1:n.1991-4A>G (SLC37A4)
ENST00000697851.1:n.2962-4A>G (SLC37A4)
ENST00000638186.1:n.1428-4A>G (SLC37A4)
ENST00000638360.1:n.1260-4A>G (SLC37A4)
ENST00000638925.1:n.1393-4A>G (SLC37A4)
ENST00000650539.1:n.1596-4A>G (SLC37A4)
ENST00000330775.9:c.1124-4A>G (SLC37A4)	ENSP00000476242.2:n.1124-4A>G
ENST00000357590.9:c.1190-4A>G (SLC37A4)	ENSP00000476176.2:n.1190-4A>G
ENST00000524428.5:n.1360-4A>G (SLC37A4)
ENST00000525039.5:n.1614-4A>G (SLC37A4)
ENST00000525102.5:n.1882-4A>G (SLC37A4)
ENST00000525372.5:n.1222-4A>G (SLC37A4)
ENST00000526275.5:n.1906-4A>G (SLC37A4)
ENST00000527992.5:n.1352-4A>G (SLC37A4)
ENST00000530407.5:n.1274-4A>G (SLC37A4)
ENST00000532085.1:n.5142-4A>G (SLC37A4)
ENST00000533058.5:c.*31T>C (TRAPPC4)	ENSP00000432920.1:n.*31T>C
ENST00000538950.5:c.905-4A>G (SLC37A4)	ENSP00000475991.2:n.905-4A>G
ENST00000545985.5:c.1124-4A>G (SLC37A4)	ENSP00000475241.2:n.1124-4A>G
NM_001164277.1:c.1124-4A>G , LRG_187t1:c.1124-4A>G (SLC37A4)	NP_001157749.1:n.1124-4A>G
NM_001164278.1:c.1190-4A>G (SLC37A4)	NP_001157750.1:n.1190-4A>G
NM_001164279.1:c.905-4A>G (SLC37A4)	NP_001157751.1:n.905-4A>G
NM_001164280.1:c.1124-4A>G (SLC37A4)	NP_001157752.1:n.1124-4A>G
NM_001467.5:c.1124-4A>G (SLC37A4)	NP_001458.1:n.1124-4A>G
NM_001164278.2:c.1190-4A>G (SLC37A4)	NP_001157750.1:n.1190-4A>G
NM_001164279.2:c.905-4A>G (SLC37A4)	NP_001157751.1:n.905-4A>G
NM_001164280.2:c.1124-4A>G (SLC37A4)	NP_001157752.1:n.1124-4A>G
NM_001467.6:c.1124-4A>G (SLC37A4)	NP_001458.1:n.1124-4A>G
NM_001164277.2:c.1124-4A>G (SLC37A4) MANE Select	NP_001157749.1:n.1124-4A>G