Canonical Allele Identifier: CA4772863

Gene: CPA6 ARFGEF1-DT

Linked Data

• dbSNP Id: rs749601195
• ExAC: 8:68396099 C / T
• gnomAD v2: 8-68396099-C-T
• gnomAD v4: 8-67483864-C-T
• MyVariant Identifiers: chr8:g.68396099C>T (hg19) ; chr8:g.67483864C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67483864C>T , CM000670.2:g.67483864C>T	GRCh38
NC_000008.10:g.68396099C>T , CM000670.1:g.68396099C>T	GRCh37
NC_000008.9:g.68558653C>T	NCBI36
NG_027682.1:g.267522G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.748-6G>A (CPA6) MANE Select	ENSP00000297770.4:n.748-6G>A
ENST00000638254.1:c.*344-6G>A (CPA6)	ENSP00000491129.1:n.*344-6G>A
ENST00000297770.8:c.748-6G>A (CPA6)	ENSP00000297770.4:n.748-6G>A
ENST00000479862.6:c.*344-6G>A (CPA6)	ENSP00000419016.2:n.*344-6G>A
ENST00000518549.1:c.748-6G>A (CPA6)	ENSP00000431112.1:n.748-6G>A
NM_020361.4:c.748-6G>A (CPA6)	NP_065094.3:n.748-6G>A
XM_011517569.1:c.841-6G>A (CPA6)	XP_011515871.1:n.841-6G>A
XM_011517570.1:c.304-6G>A (CPA6)	XP_011515872.1:n.304-6G>A
NR_136224.1:n.694-7101C>T (ARFGEF1-DT)
XM_011517570.2:c.304-6G>A (CPA6)	XP_011515872.1:n.304-6G>A
XM_017013646.1:c.304-6G>A (CPA6)	XP_016869135.1:n.304-6G>A
XR_001745565.1:n.1556-6G>A (CPA6)
NM_020361.5:c.748-6G>A (CPA6) MANE Select	NP_065094.3:n.748-6G>A