Canonical Allele Identifier: CA229599274

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 1144561
• ClinVar RCV Id: RCV001483098
• dbSNP Id: rs377452076
• gnomAD v2: 11-118898559-G-A
• gnomAD v4: 11-119027849-G-A
• MyVariant Identifiers: chr11:g.118898559G>A (hg19) ; chr11:g.119027849G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027849G>A , CM000673.2:g.119027849G>A	GRCh38
NC_000011.9:g.118898559G>A , CM000673.1:g.118898559G>A	GRCh37
NC_000011.8:g.118403769G>A	NCBI36
NG_013331.1:g.8058C>T , LRG_187:g.8058C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.634C>T
ENST00000697845.1:n.558C>T
ENST00000697846.1:n.634C>T
ENST00000697847.1:n.634C>T
ENST00000697848.1:n.634C>T
ENST00000697849.1:n.1673C>T
ENST00000697850.1:n.634C>T
ENST00000697851.1:n.1994C>T
ENST00000638186.1:n.708C>T
ENST00000638360.1:n.619-79C>T
ENST00000638925.1:n.641C>T
ENST00000650539.1:n.810C>T
ENST00000330775.9:c.405C>T	ENSP00000476242.2:p.Gly135=
ENST00000357590.9:c.405C>T	ENSP00000476176.2:p.Gly135=
ENST00000524428.5:n.726C>T
ENST00000525039.5:n.828C>T
ENST00000525102.5:n.1162C>T
ENST00000525372.5:n.405C>T
ENST00000525787.1:n.1021C>T
ENST00000526275.5:n.1186C>T
ENST00000526626.6:n.367C>T
ENST00000527992.5:n.632C>T
ENST00000529510.5:n.399+345C>T
ENST00000530407.5:n.554C>T
ENST00000532085.1:n.3015C>T
ENST00000532888.6:n.700C>T
ENST00000538950.5:c.186C>T	ENSP00000475991.2:p.Gly62=
ENST00000545985.5:c.405C>T	ENSP00000475241.2:p.Gly135=
NM_001164277.1:c.405C>T , LRG_187t1:c.405C>T	NP_001157749.1:p.Gly135=
NM_001164278.1:c.405C>T	NP_001157750.1:p.Gly135=
NM_001164279.1:c.186C>T	NP_001157751.1:p.Gly62=
NM_001164280.1:c.405C>T	NP_001157752.1:p.Gly135=
NM_001467.5:c.405C>T	NP_001458.1:p.Gly135=
NM_001164278.2:c.405C>T	NP_001157750.1:p.Gly135=
NM_001164279.2:c.186C>T	NP_001157751.1:p.Gly62=
NM_001164280.2:c.405C>T	NP_001157752.1:p.Gly135=
NM_001467.6:c.405C>T	NP_001458.1:p.Gly135=
NM_001164277.2:c.405C>T MANE Select	NP_001157749.1:p.Gly135=