Canonical Allele Identifier: CA4772856

Gene: CPA6 ARFGEF1-DT

Linked Data

• dbSNP Id: rs748596013
• ExAC: 8:68396087 A / G
• gnomAD v2: 8-68396087-A-G
• gnomAD v4: 8-67483852-A-G
• MyVariant Identifiers: chr8:g.68396087A>G (hg19) ; chr8:g.67483852A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67483852A>G , CM000670.2:g.67483852A>G	GRCh38
NC_000008.10:g.68396087A>G , CM000670.1:g.68396087A>G	GRCh37
NC_000008.9:g.68558641A>G	NCBI36
NG_027682.1:g.267534T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.754T>C (CPA6) MANE Select	ENSP00000297770.4:p.Phe252Leu
ENST00000638254.1:c.*350T>C (CPA6)	ENSP00000491129.1:n.*350T>C
ENST00000297770.8:c.754T>C (CPA6)	ENSP00000297770.4:p.Phe252Leu
ENST00000479862.6:c.*350T>C (CPA6)	ENSP00000419016.2:n.*350T>C
ENST00000518549.1:c.754T>C (CPA6)	ENSP00000431112.1:p.Phe252Leu
NM_020361.4:c.754T>C (CPA6)	NP_065094.3:p.Phe252Leu
XM_011517569.1:c.847T>C (CPA6)	XP_011515871.1:p.Phe283Leu
XM_011517570.1:c.310T>C (CPA6)	XP_011515872.1:p.Phe104Leu
NR_136224.1:n.694-7113A>G (ARFGEF1-DT)
XM_011517570.2:c.310T>C (CPA6)	XP_011515872.1:p.Phe104Leu
XM_017013646.1:c.310T>C (CPA6)	XP_016869135.1:p.Phe104Leu
XR_001745565.1:n.1562T>C (CPA6)
NM_020361.5:c.754T>C (CPA6) MANE Select	NP_065094.3:p.Phe252Leu