Canonical Allele Identifier: CA219364

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 68294
• ClinVar RCV Id: RCV000059146 ; RCV001388583 ; RCV001813754 ; RCV002498349
• dbSNP Id: rs193302903
• gnomAD v2: 11-118896762-C-T
• gnomAD v4: 11-119026052-C-T
• MyVariant Identifiers: chr11:g.118896762C>T (hg19) ; chr11:g.119026052C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026052C>T , CM000673.2:g.119026052C>T	GRCh38
NC_000011.9:g.118896762C>T , CM000673.1:g.118896762C>T	GRCh37
NC_000011.8:g.118401972C>T	NCBI36
NG_013331.1:g.9854G>A , LRG_187:g.9854G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1043G>A
ENST00000697845.1:n.1823G>A
ENST00000697846.1:n.1043G>A
ENST00000697847.1:n.1202-295G>A
ENST00000697848.1:n.1129G>A
ENST00000697849.1:n.2938G>A
ENST00000697850.1:n.1129G>A
ENST00000697851.1:n.2737G>A
ENST00000638186.1:n.1203G>A
ENST00000638360.1:n.1035G>A
ENST00000638925.1:n.1168G>A
ENST00000650539.1:n.1305G>A
ENST00000330775.9:c.899G>A	ENSP00000476242.2:p.Arg300His
ENST00000357590.9:c.899G>A	ENSP00000476176.2:p.Arg300His
ENST00000524428.5:n.1135G>A
ENST00000525039.5:n.1323G>A
ENST00000525102.5:n.1657G>A
ENST00000525372.5:n.997G>A
ENST00000526275.5:n.1681G>A
ENST00000527992.5:n.1127G>A
ENST00000529510.5:n.587G>A
ENST00000530407.5:n.1049G>A
ENST00000532085.1:n.4280G>A
ENST00000538950.5:c.680G>A	ENSP00000475991.2:p.Arg227His
ENST00000545985.5:c.899G>A	ENSP00000475241.2:p.Arg300His
NM_001164277.1:c.899G>A , LRG_187t1:c.899G>A	NP_001157749.1:p.Arg300His
NM_001164278.1:c.899G>A	NP_001157750.1:p.Arg300His
NM_001164279.1:c.680G>A	NP_001157751.1:p.Arg227His
NM_001164280.1:c.899G>A	NP_001157752.1:p.Arg300His
NM_001467.5:c.899G>A	NP_001458.1:p.Arg300His
NM_001164278.2:c.899G>A	NP_001157750.1:p.Arg300His
NM_001164279.2:c.680G>A	NP_001157751.1:p.Arg227His
NM_001164280.2:c.899G>A	NP_001157752.1:p.Arg300His
NM_001467.6:c.899G>A	NP_001458.1:p.Arg300His
NM_001164277.2:c.899G>A MANE Select	NP_001157749.1:p.Arg300His