Canonical Allele Identifier: CA174574

Gene: CAPN6

Linked Data

• ClinVar Variation Id: 161673
• ClinVar RCV Id: RCV000149209
• dbSNP Id: rs193921059
• ExAC: X:110489974 C / T
• gnomAD v2: X-110489974-C-T
• gnomAD v4: X-111246746-C-T
• COSMIC: COSM1179112
• MyVariant Identifiers: chrX:g.110489974C>T (hg19) ; chrX:g.111246746C>T (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.111246746C>T , CM000685.2:g.111246746C>T	GRCh38
NC_000023.10:g.110489974C>T , CM000685.1:g.110489974C>T	GRCh37
NC_000023.9:g.110376630C>T	NCBI36
NG_015962.1:g.28801G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324068.2:c.1757G>A MANE Select	ENSP00000317214.1:p.Arg586Gln
ENST00000324068.1:c.1757G>A	ENSP00000317214.1:p.Arg586Gln
NM_014289.3:c.1757G>A	NP_055104.2:p.Arg586Gln
NM_014289.4:c.1757G>A MANE Select	NP_055104.2:p.Arg586Gln