Canonical Allele Identifier: CA382812313

Gene: ARCN1

Linked Data

• ClinVar Variation Id: 2081128
• ClinVar RCV Id: RCV002994044 ; RCV002994045 ; RCV003138428
• dbSNP Id: rs1938940159
• gnomAD v4: 11-118592728-A-G
• MyVariant Identifiers: chr11:g.118463443A>G (hg19) ; chr11:g.118592728A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118592728A>G , CM000673.2:g.118592728A>G	GRCh38
NC_000011.9:g.118463443A>G , CM000673.1:g.118463443A>G	GRCh37
NC_000011.8:g.117968653A>G	NCBI36
NG_051953.1:g.25342A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264028.5:c.1004A>G MANE Select	ENSP00000264028.4:p.Lys335Arg
ENST00000264028.4:c.1004A>G	ENSP00000264028.4:p.Lys335Arg
ENST00000359415.8:c.1127A>G	ENSP00000352385.4:p.Lys376Arg
ENST00000392859.7:c.740A>G	ENSP00000376599.3:p.Lys247Arg
ENST00000534182.2:c.160-8908A>G	ENSP00000431676.1:n.160-8908A>G
ENST00000614498.4:c.509-8594A>G	ENSP00000482114.1:n.509-8594A>G
NM_001142281.1:c.740A>G	NP_001135753.1:p.Lys247Arg
NM_001655.4:c.1004A>G	NP_001646.2:p.Lys335Arg
XM_005271542.2:c.1004A>G	XP_005271599.1:p.Lys335Arg
XM_005271542.4:c.1004A>G	XP_005271599.1:p.Lys335Arg
NM_001655.5:c.1004A>G MANE Select	NP_001646.2:p.Lys335Arg
NM_001142281.2:c.740A>G	NP_001135753.1:p.Lys247Arg