Canonical Allele Identifier: CA1811420
Gene: SLC9A4 HGNC NCBI

Linked Data

dbSNP Id: rs199784614
ExAC: 2:103149074 C / T
gnomAD v2: 2-103149074-C-T
gnomAD v3: 2-102532615-C-T
gnomAD v4: 2-102532615-C-T
COSMIC: COSM3406735
MyVariant Identifiers: chr2:g.103149074C>T (hg19) chr2:g.102532615C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.102532615C>T , CM000664.2:g.102532615C>T GRCh38
NC_000002.11:g.103149074C>T , CM000664.1:g.103149074C>T GRCh37
NC_000002.10:g.102515506C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000295269.5:c.2324C>T MANE Select ENSP00000295269.4:p.Ser775Leu
ENST00000295269.4:c.2324C>T ENSP00000295269.4:p.Ser775Leu
NM_001011552.3:c.2324C>T NP_001011552.2:p.Ser775Leu
XM_011511158.1:c.2237C>T XP_011509460.1:p.Ser746Leu
NM_001011552.4:c.2324C>T MANE Select NP_001011552.2:p.Ser775Leu
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