Canonical Allele Identifier: CA1811431

Gene: SLC9A4

Linked Data

• dbSNP Id: rs763001569
• ExAC: 2:103149120 CCATAGTCCTTTGCTCCA / C
• gnomAD v2: 2-103149120-CCATAGTCCTTTGCTCCA-C
• MyVariant Identifiers: chr2:g.103149121_103149137del (hg19) ; chr2:g.102532662_102532678del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.102532662_102532678del , CM000664.2:g.102532662_102532678del	GRCh38
NC_000002.11:g.103149121_103149137del , CM000664.1:g.103149121_103149137del	GRCh37
NC_000002.10:g.102515553_102515569del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000295269.5:c.2371_2387del MANE Select	ENSP00000295269.4:p.His791LysfsTer?
ENST00000295269.4:c.2371_2387del	ENSP00000295269.4:p.His791LysfsTer?
NM_001011552.3:c.2371_2387del	NP_001011552.2:p.His791LysfsTer?
XM_011511158.1:c.2284_2300del	XP_011509460.1:p.His762LysfsTer?
NM_001011552.4:c.2371_2387del MANE Select	NP_001011552.2:p.His791LysfsTer?