Canonical Allele Identifier: CA371260939

Gene: CPA6 ARFGEF1-DT

Linked Data

• ClinVar Variation Id: 472763
• ClinVar RCV Id: RCV000539393 ; RCV002275068
• dbSNP Id: rs781369203
• gnomAD v4: 8-67483849-A-C
• MyVariant Identifiers: chr8:g.68396084A>C (hg19) ; chr8:g.67483849A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67483849A>C , CM000670.2:g.67483849A>C	GRCh38
NC_000008.10:g.68396084A>C , CM000670.1:g.68396084A>C	GRCh37
NC_000008.9:g.68558638A>C	NCBI36
NG_027682.1:g.267537T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.757T>G (CPA6) MANE Select	ENSP00000297770.4:p.Trp253Gly
ENST00000638254.1:c.*353T>G (CPA6)	ENSP00000491129.1:n.*353T>G
ENST00000297770.8:c.757T>G (CPA6)	ENSP00000297770.4:p.Trp253Gly
ENST00000479862.6:c.*353T>G (CPA6)	ENSP00000419016.2:n.*353T>G
ENST00000518549.1:c.757T>G (CPA6)	ENSP00000431112.1:p.Trp253Gly
NM_020361.4:c.757T>G (CPA6)	NP_065094.3:p.Trp253Gly
XM_011517569.1:c.850T>G (CPA6)	XP_011515871.1:p.Trp284Gly
XM_011517570.1:c.313T>G (CPA6)	XP_011515872.1:p.Trp105Gly
NR_136224.1:n.694-7116A>C (ARFGEF1-DT)
XM_011517570.2:c.313T>G (CPA6)	XP_011515872.1:p.Trp105Gly
XM_017013646.1:c.313T>G (CPA6)	XP_016869135.1:p.Trp105Gly
XR_001745565.1:n.1565T>G (CPA6)
NM_020361.5:c.757T>G (CPA6) MANE Select	NP_065094.3:p.Trp253Gly