Canonical Allele Identifier: CA4772845

Gene: CPA6 ARFGEF1-DT

Linked Data

• ClinVar Variation Id: 363607
• ClinVar RCV Id: RCV000341240 ; RCV000699610
• dbSNP Id: rs752555064
• ExAC: 8:68396050 C / T
• gnomAD v2: 8-68396050-C-T
• gnomAD v3: 8-67483815-C-T
• gnomAD v4: 8-67483815-C-T
• COSMIC: COSM291208
• MyVariant Identifiers: chr8:g.68396050C>T (hg19) ; chr8:g.67483815C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67483815C>T , CM000670.2:g.67483815C>T	GRCh38
NC_000008.10:g.68396050C>T , CM000670.1:g.68396050C>T	GRCh37
NC_000008.9:g.68558604C>T	NCBI36
NG_027682.1:g.267571G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.791G>A (CPA6) MANE Select	ENSP00000297770.4:p.Arg264His
ENST00000638254.1:c.*387G>A (CPA6)	ENSP00000491129.1:n.*387G>A
ENST00000297770.8:c.791G>A (CPA6)	ENSP00000297770.4:p.Arg264His
ENST00000479862.6:c.*387G>A (CPA6)	ENSP00000419016.2:n.*387G>A
ENST00000518549.1:c.791G>A (CPA6)	ENSP00000431112.1:p.Arg264His
NM_020361.4:c.791G>A (CPA6)	NP_065094.3:p.Arg264His
XM_011517569.1:c.884G>A (CPA6)	XP_011515871.1:p.Arg295His
XM_011517570.1:c.347G>A (CPA6)	XP_011515872.1:p.Arg116His
NR_136224.1:n.694-7150C>T (ARFGEF1-DT)
XM_011517570.2:c.347G>A (CPA6)	XP_011515872.1:p.Arg116His
XM_017013646.1:c.347G>A (CPA6)	XP_016869135.1:p.Arg116His
XR_001745565.1:n.1599G>A (CPA6)
NM_020361.5:c.791G>A (CPA6) MANE Select	NP_065094.3:p.Arg264His