Canonical Allele Identifier: CA1811408
Gene: SLC9A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2555197
ClinVar RCV Id: RCV004324966
dbSNP Id: rs757465774
ExAC: 2:103149016 G / A
gnomAD v2: 2-103149016-G-A
gnomAD v4: 2-102532557-G-A
COSMIC: COSM5539326
MyVariant Identifiers: chr2:g.103149016G>A (hg19) chr2:g.102532557G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.102532557G>A , CM000664.2:g.102532557G>A GRCh38
NC_000002.11:g.103149016G>A , CM000664.1:g.103149016G>A GRCh37
NC_000002.10:g.102515448G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000295269.5:c.2266G>A MANE Select ENSP00000295269.4:p.Glu756Lys
ENST00000295269.4:c.2266G>A ENSP00000295269.4:p.Glu756Lys
NM_001011552.3:c.2266G>A NP_001011552.2:p.Glu756Lys
XM_011511158.1:c.2179G>A XP_011509460.1:p.Glu727Lys
NM_001011552.4:c.2266G>A MANE Select NP_001011552.2:p.Glu756Lys
Search 100 bp 5'
Search 100 bp 3'