Canonical Allele Identifier: CA602177906

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 558273
• ClinVar RCV Id: RCV000674514
• dbSNP Id: rs1250046397
• gnomAD v2: 11-118897308-C-T
• gnomAD v3: 11-119026598-C-T
• gnomAD v4: 11-119026598-C-T
• MyVariant Identifiers: chr11:g.118897308C>T (hg19) ; chr11:g.119026598C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026598C>T , CM000673.2:g.119026598C>T	GRCh38
NC_000011.9:g.118897308C>T , CM000673.1:g.118897308C>T	GRCh37
NC_000011.8:g.118402518C>T	NCBI36
NG_013331.1:g.9308G>A , LRG_187:g.9308G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1014+339G>A
ENST00000697845.1:n.1277G>A
ENST00000697846.1:n.1014+339G>A
ENST00000697847.1:n.1105G>A
ENST00000697848.1:n.1100+5G>A
ENST00000697849.1:n.2392G>A
ENST00000697850.1:n.1100+5G>A
ENST00000697851.1:n.2708+5G>A
ENST00000638186.1:n.1174+5G>A
ENST00000638360.1:n.1006+5G>A
ENST00000638925.1:n.1112G>A
ENST00000650539.1:n.1276+5G>A
ENST00000330775.9:c.870+5G>A	ENSP00000476242.2:n.870+5G>A
ENST00000357590.9:c.870+5G>A	ENSP00000476176.2:n.870+5G>A
ENST00000524428.5:n.1106+339G>A
ENST00000525039.5:n.1294+5G>A
ENST00000525102.5:n.1628+5G>A
ENST00000525372.5:n.876G>A
ENST00000526275.5:n.1652+5G>A
ENST00000527992.5:n.1098+5G>A
ENST00000529510.5:n.558+339G>A
ENST00000530407.5:n.1020+5G>A
ENST00000532085.1:n.3734G>A
ENST00000538950.5:c.651+5G>A	ENSP00000475991.2:n.651+5G>A
ENST00000545985.5:c.870+5G>A	ENSP00000475241.2:n.870+5G>A
NM_001164277.1:c.870+5G>A , LRG_187t1:c.870+5G>A	NP_001157749.1:n.870+5G>A
NM_001164278.1:c.870+5G>A	NP_001157750.1:n.870+5G>A
NM_001164279.1:c.651+5G>A	NP_001157751.1:n.651+5G>A
NM_001164280.1:c.870+5G>A	NP_001157752.1:n.870+5G>A
NM_001467.5:c.870+5G>A	NP_001458.1:n.870+5G>A
NM_001164278.2:c.870+5G>A	NP_001157750.1:n.870+5G>A
NM_001164279.2:c.651+5G>A	NP_001157751.1:n.651+5G>A
NM_001164280.2:c.870+5G>A	NP_001157752.1:n.870+5G>A
NM_001467.6:c.870+5G>A	NP_001458.1:n.870+5G>A
NM_001164277.2:c.870+5G>A MANE Select	NP_001157749.1:n.870+5G>A