Canonical Allele Identifier: CA1811430
Gene: SLC9A4 HGNC NCBI

Linked Data

dbSNP Id: rs748978451
ExAC: 2:103149119 C / T
gnomAD v2: 2-103149119-C-T
MyVariant Identifiers: chr2:g.103149119C>T (hg19) chr2:g.102532660C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.102532660C>T , CM000664.2:g.102532660C>T GRCh38
NC_000002.11:g.103149119C>T , CM000664.1:g.103149119C>T GRCh37
NC_000002.10:g.102515551C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000295269.5:c.2369C>T MANE Select ENSP00000295269.4:p.Ser790Phe
ENST00000295269.4:c.2369C>T ENSP00000295269.4:p.Ser790Phe
NM_001011552.3:c.2369C>T NP_001011552.2:p.Ser790Phe
XM_011511158.1:c.2282C>T XP_011509460.1:p.Ser761Phe
NM_001011552.4:c.2369C>T MANE Select NP_001011552.2:p.Ser790Phe
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