Canonical Allele Identifier: CA1685967

Gene: SLC1A4

Linked Data

• ClinVar Variation Id: 265259
• ClinVar RCV Id: RCV000412571 ; RCV000505792
• dbSNP Id: rs201278558
• ExAC: 2:65237863 G / A
• gnomAD v2: 2-65237863-G-A
• gnomAD v3: 2-65010729-G-A
• gnomAD v4: 2-65010729-G-A
• MyVariant Identifiers: chr2:g.65237863G>A (hg19) ; chr2:g.65010729G>A (hg38)
• PubMed: PMID:25930971 ; PMID:26041762 ; PMID:26138499

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.65010729G>A , CM000664.2:g.65010729G>A	GRCh38
NC_000002.11:g.65237863G>A , CM000664.1:g.65237863G>A	GRCh37
NC_000002.10:g.65091367G>A	NCBI36
NG_053002.1:g.27285G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234256.4:c.766G>A MANE Select	ENSP00000234256.3:p.Glu256Lys
ENST00000234256.3:c.766G>A	ENSP00000234256.3:p.Glu256Lys
ENST00000471551.5:n.370G>A
ENST00000480594.1:n.2239G>A
ENST00000493121.5:n.383G>A
ENST00000531327.5:c.106G>A	ENSP00000431942.1:p.Glu36Lys
NM_001193493.1:c.106G>A	NP_001180422.1:p.Glu36Lys
NM_003038.4:c.766G>A	NP_003029.2:p.Glu256Lys
XM_006712079.1:c.106G>A	XP_006712142.1:p.Glu36Lys
NM_001348406.1:c.106G>A	NP_001335335.1:p.Glu36Lys
NM_001348407.1:c.106G>A	NP_001335336.1:p.Glu36Lys
XR_002959394.1:n.562+37225C>T
XR_002959395.1:n.621+37225C>T
XR_002959396.1:n.561+37225C>T
XR_002959397.1:n.302+37225C>T
XR_002959398.1:n.561+37225C>T
XR_002959399.1:n.558+37225C>T
NM_003038.5:c.766G>A MANE Select	NP_003029.2:p.Glu256Lys
NM_001193493.2:c.106G>A	NP_001180422.1:p.Glu36Lys
NM_001348406.2:c.106G>A	NP_001335335.1:p.Glu36Lys
NM_001348407.2:c.106G>A	NP_001335336.1:p.Glu36Lys