Canonical Allele Identifier: CA6311660

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 551112
• ClinVar RCV Id: RCV000666084
• dbSNP Id: rs369907198
• ExAC: 11:118896429 C / T
• gnomAD v2: 11-118896429-C-T
• gnomAD v3: 11-119025719-C-T
• gnomAD v4: 11-119025719-C-T
• MyVariant Identifiers: chr11:g.118896429C>T (hg19) ; chr11:g.119025719C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025719C>T , CM000673.2:g.119025719C>T	GRCh38
NC_000011.9:g.118896429C>T , CM000673.1:g.118896429C>T	GRCh37
NC_000011.8:g.118401639C>T	NCBI36
NG_013331.1:g.10187G>A , LRG_187:g.10187G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1167G>A
ENST00000697845.1:n.2156G>A
ENST00000697846.1:n.1167G>A
ENST00000697847.1:n.1240G>A
ENST00000697848.1:n.1253G>A
ENST00000697849.1:n.3271G>A
ENST00000697850.1:n.1462G>A
ENST00000697851.1:n.2822+248G>A
ENST00000638186.1:n.1288+248G>A
ENST00000638360.1:n.1120+248G>A
ENST00000638925.1:n.1253+248G>A
ENST00000650539.1:n.1429G>A
ENST00000330775.9:c.984+248G>A	ENSP00000476242.2:n.984+248G>A
ENST00000357590.9:c.1023G>A	ENSP00000476176.2:p.Ala341=
ENST00000524428.5:n.1220+248G>A
ENST00000525039.5:n.1447G>A
ENST00000525102.5:n.1742+248G>A
ENST00000525372.5:n.1082+248G>A
ENST00000526275.5:n.1766+248G>A
ENST00000527992.5:n.1212+248G>A
ENST00000529510.5:n.672+248G>A
ENST00000530407.5:n.1134+248G>A
ENST00000532085.1:n.4613G>A
ENST00000538950.5:c.765+248G>A	ENSP00000475991.2:n.765+248G>A
ENST00000545985.5:c.984+248G>A	ENSP00000475241.2:n.984+248G>A
NM_001164277.1:c.984+248G>A , LRG_187t1:c.984+248G>A	NP_001157749.1:n.984+248G>A
NM_001164278.1:c.1023G>A	NP_001157750.1:p.Ala341=
NM_001164279.1:c.765+248G>A	NP_001157751.1:n.765+248G>A
NM_001164280.1:c.984+248G>A	NP_001157752.1:n.984+248G>A
NM_001467.5:c.984+248G>A	NP_001458.1:n.984+248G>A
NM_001164278.2:c.1023G>A	NP_001157750.1:p.Ala341=
NM_001164279.2:c.765+248G>A	NP_001157751.1:n.765+248G>A
NM_001164280.2:c.984+248G>A	NP_001157752.1:n.984+248G>A
NM_001467.6:c.984+248G>A	NP_001458.1:n.984+248G>A
NM_001164277.2:c.984+248G>A MANE Select	NP_001157749.1:n.984+248G>A