Canonical Allele Identifier: CA52947316

Gene: SLC9A4

Linked Data

• ClinVar Variation Id: 2287412
• ClinVar RCV Id: RCV004133218
• dbSNP Id: rs1008911718
• gnomAD v2: 2-103149071-G-A
• gnomAD v3: 2-102532612-G-A
• gnomAD v4: 2-102532612-G-A
• MyVariant Identifiers: chr2:g.103149071G>A (hg19) ; chr2:g.102532612G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.102532612G>A , CM000664.2:g.102532612G>A	GRCh38
NC_000002.11:g.103149071G>A , CM000664.1:g.103149071G>A	GRCh37
NC_000002.10:g.102515503G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295269.5:c.2321G>A MANE Select	ENSP00000295269.4:p.Arg774Gln
ENST00000295269.4:c.2321G>A	ENSP00000295269.4:p.Arg774Gln
NM_001011552.3:c.2321G>A	NP_001011552.2:p.Arg774Gln
XM_011511158.1:c.2234G>A	XP_011509460.1:p.Arg745Gln
NM_001011552.4:c.2321G>A MANE Select	NP_001011552.2:p.Arg774Gln