Canonical Allele Identifier: CA4772780

Gene: CPA6 ARFGEF1-DT

Linked Data

• ClinVar Variation Id: 472765
• ClinVar RCV Id: RCV000533360 ; RCV002060350
• dbSNP Id: rs147046973
• ExAC: 8:68346398 C / T
• gnomAD v2: 8-68346398-C-T
• gnomAD v3: 8-67434163-C-T
• gnomAD v4: 8-67434163-C-T
• MyVariant Identifiers: chr8:g.68346398C>T (hg19) ; chr8:g.67434163C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67434163C>T , CM000670.2:g.67434163C>T	GRCh38
NC_000008.10:g.68346398C>T , CM000670.1:g.68346398C>T	GRCh37
NC_000008.9:g.68508952C>T	NCBI36
NG_027682.1:g.317223G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.916G>A (CPA6) MANE Select	ENSP00000297770.4:p.Val306Ile
ENST00000638254.1:c.*512G>A (CPA6)	ENSP00000491129.1:n.*512G>A
ENST00000639116.1:n.436G>A (CPA6)
ENST00000297770.8:c.916G>A (CPA6)	ENSP00000297770.4:p.Val306Ile
ENST00000479862.6:c.*435-11472G>A (CPA6)	ENSP00000419016.2:n.*435-11472G>A
NM_020361.4:c.916G>A (CPA6)	NP_065094.3:p.Val306Ile
XM_011517569.1:c.1009G>A (CPA6)	XP_011515871.1:p.Val337Ile
XM_011517570.1:c.472G>A (CPA6)	XP_011515872.1:p.Val158Ile
NR_136224.1:n.470-8047C>T (ARFGEF1-DT)
XM_011517570.2:c.472G>A (CPA6)	XP_011515872.1:p.Val158Ile
XM_017013646.1:c.472G>A (CPA6)	XP_016869135.1:p.Val158Ile
XR_001745565.1:n.1647-6032G>A (CPA6)
NM_020361.5:c.916G>A (CPA6) MANE Select	NP_065094.3:p.Val306Ile