Canonical Allele Identifier: CA477125094

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 555470
• ClinVar RCV Id: RCV000671296
• dbSNP Id: rs1388277495
• gnomAD v2: 11-118896770-C-T
• gnomAD v4: 11-119026060-C-T
• MyVariant Identifiers: chr11:g.118896770C>T (hg19) ; chr11:g.119026060C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026060C>T , CM000673.2:g.119026060C>T	GRCh38
NC_000011.9:g.118896770C>T , CM000673.1:g.118896770C>T	GRCh37
NC_000011.8:g.118401980C>T	NCBI36
NG_013331.1:g.9846G>A , LRG_187:g.9846G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1035G>A
ENST00000697845.1:n.1815G>A
ENST00000697846.1:n.1035G>A
ENST00000697847.1:n.1202-303G>A
ENST00000697848.1:n.1121G>A
ENST00000697849.1:n.2930G>A
ENST00000697850.1:n.1121G>A
ENST00000697851.1:n.2729G>A
ENST00000638186.1:n.1195G>A
ENST00000638360.1:n.1027G>A
ENST00000638925.1:n.1160G>A
ENST00000650539.1:n.1297G>A
ENST00000330775.9:c.891G>A	ENSP00000476242.2:p.Gly297=
ENST00000357590.9:c.891G>A	ENSP00000476176.2:p.Gly297=
ENST00000524428.5:n.1127G>A
ENST00000525039.5:n.1315G>A
ENST00000525102.5:n.1649G>A
ENST00000525372.5:n.989G>A
ENST00000526275.5:n.1673G>A
ENST00000527992.5:n.1119G>A
ENST00000529510.5:n.579G>A
ENST00000530407.5:n.1041G>A
ENST00000532085.1:n.4272G>A
ENST00000538950.5:c.672G>A	ENSP00000475991.2:p.Gly224=
ENST00000545985.5:c.891G>A	ENSP00000475241.2:p.Gly297=
NM_001164277.1:c.891G>A , LRG_187t1:c.891G>A	NP_001157749.1:p.Gly297=
NM_001164278.1:c.891G>A	NP_001157750.1:p.Gly297=
NM_001164279.1:c.672G>A	NP_001157751.1:p.Gly224=
NM_001164280.1:c.891G>A	NP_001157752.1:p.Gly297=
NM_001467.5:c.891G>A	NP_001458.1:p.Gly297=
NM_001164278.2:c.891G>A	NP_001157750.1:p.Gly297=
NM_001164279.2:c.672G>A	NP_001157751.1:p.Gly224=
NM_001164280.2:c.891G>A	NP_001157752.1:p.Gly297=
NM_001467.6:c.891G>A	NP_001458.1:p.Gly297=
NM_001164277.2:c.891G>A MANE Select	NP_001157749.1:p.Gly297=