Canonical Allele Identifier: CA10590053

Gene: ARCN1

Linked Data

• ClinVar Variation Id: 267209
• ClinVar RCV Id: RCV000257989
• dbSNP Id: rs886040859
• gnomAD v4: 11-118581502-C-A
• MyVariant Identifiers: chr11:g.118452217C>A (hg19) ; chr11:g.118581502C>A (hg38)
• PubMed: PMID:27476655

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118581502C>A , CM000673.2:g.118581502C>A	GRCh38
NC_000011.9:g.118452217C>A , CM000673.1:g.118452217C>A	GRCh37
NC_000011.8:g.117957427C>A	NCBI36
NG_051953.1:g.14116C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264028.5:c.260C>A MANE Select	ENSP00000264028.4:p.Ser87Ter
ENST00000264028.4:c.260C>A	ENSP00000264028.4:p.Ser87Ter
ENST00000359415.8:c.383C>A	ENSP00000352385.4:p.Ser128Ter
ENST00000392859.7:c.4-1677C>A	ENSP00000376599.3:n.4-1677C>A
ENST00000534182.2:c.159+101C>A	ENSP00000431676.1:n.159+101C>A
ENST00000614498.4:c.260C>A	ENSP00000482114.1:p.Ser87Ter
NM_001142281.1:c.4-1677C>A	NP_001135753.1:n.4-1677C>A
NM_001655.4:c.260C>A	NP_001646.2:p.Ser87Ter
XM_005271542.2:c.260C>A	XP_005271599.1:p.Ser87Ter
XM_005271542.4:c.260C>A	XP_005271599.1:p.Ser87Ter
NM_001655.5:c.260C>A MANE Select	NP_001646.2:p.Ser87Ter
NM_001142281.2:c.4-1677C>A	NP_001135753.1:n.4-1677C>A