Canonical Allele Identifier: CA4772757

Gene: CPA6 ARFGEF1-DT

Linked Data

• ClinVar Variation Id: 363604
• ClinVar RCV Id: RCV000280874 ; RCV000649886 ; RCV003224268
• dbSNP Id: rs766177388
• ExAC: 8:68346293 T / C
• gnomAD v2: 8-68346293-T-C
• gnomAD v3: 8-67434058-T-C
• gnomAD v4: 8-67434058-T-C
• MyVariant Identifiers: chr8:g.68346293T>C (hg19) ; chr8:g.67434058T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67434058T>C , CM000670.2:g.67434058T>C	GRCh38
NC_000008.10:g.68346293T>C , CM000670.1:g.68346293T>C	GRCh37
NC_000008.9:g.68508847T>C	NCBI36
NG_027682.1:g.317328A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000297770.10:c.1021A>G (CPA6) MANE Select	ENSP00000297770.4:p.Ile341Val
ENST00000638254.1:c.*617A>G (CPA6)	ENSP00000491129.1:n.*617A>G
ENST00000639116.1:n.541A>G (CPA6)
ENST00000297770.8:c.1021A>G (CPA6)	ENSP00000297770.4:p.Ile341Val
ENST00000479862.6:c.*435-11367A>G (CPA6)	ENSP00000419016.2:n.*435-11367A>G
NM_020361.4:c.1021A>G (CPA6)	NP_065094.3:p.Ile341Val
XM_011517569.1:c.1114A>G (CPA6)	XP_011515871.1:p.Ile372Val
XM_011517570.1:c.577A>G (CPA6)	XP_011515872.1:p.Ile193Val
NR_136224.1:n.470-8152T>C (ARFGEF1-DT)
XM_011517570.2:c.577A>G (CPA6)	XP_011515872.1:p.Ile193Val
XM_017013646.1:c.577A>G (CPA6)	XP_016869135.1:p.Ile193Val
XR_001745565.1:n.1647-5927A>G (CPA6)
NM_020361.5:c.1021A>G (CPA6) MANE Select	NP_065094.3:p.Ile341Val