Canonical Allele Identifier: CA4772847

Gene: CPA6 ARFGEF1-DT

Linked Data

• ClinVar Variation Id: 1047776
• ClinVar RCV Id: RCV001352538 ; RCV004036690
• dbSNP Id: rs763794254
• ExAC: 8:68396055 C / A
• gnomAD v2: 8-68396055-C-A
• gnomAD v3: 8-67483820-C-A
• gnomAD v4: 8-67483820-C-A
• MyVariant Identifiers: chr8:g.68396055C>A (hg19) ; chr8:g.67483820C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67483820C>A , CM000670.2:g.67483820C>A	GRCh38
NC_000008.10:g.68396055C>A , CM000670.1:g.68396055C>A	GRCh37
NC_000008.9:g.68558609C>A	NCBI36
NG_027682.1:g.267566G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.786G>T (CPA6) MANE Select	ENSP00000297770.4:p.Arg262Ser
ENST00000638254.1:c.*382G>T (CPA6)	ENSP00000491129.1:n.*382G>T
ENST00000297770.8:c.786G>T (CPA6)	ENSP00000297770.4:p.Arg262Ser
ENST00000479862.6:c.*382G>T (CPA6)	ENSP00000419016.2:n.*382G>T
ENST00000518549.1:c.786G>T (CPA6)	ENSP00000431112.1:p.Arg262Ser
NM_020361.4:c.786G>T (CPA6)	NP_065094.3:p.Arg262Ser
XM_011517569.1:c.879G>T (CPA6)	XP_011515871.1:p.Arg293Ser
XM_011517570.1:c.342G>T (CPA6)	XP_011515872.1:p.Arg114Ser
NR_136224.1:n.694-7145C>A (ARFGEF1-DT)
XM_011517570.2:c.342G>T (CPA6)	XP_011515872.1:p.Arg114Ser
XM_017013646.1:c.342G>T (CPA6)	XP_016869135.1:p.Arg114Ser
XR_001745565.1:n.1594G>T (CPA6)
NM_020361.5:c.786G>T (CPA6) MANE Select	NP_065094.3:p.Arg262Ser