Canonical Allele Identifier: CA2596308047

Gene: CA4

Linked Data

• dbSNP Id: rs2083564951
• gnomAD v3: 17-60150219-C-A
• gnomAD v4: 17-60150219-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60150219C>A , CM000679.2:g.60150219C>A	GRCh38
NC_000017.10:g.58227580C>A , CM000679.1:g.58227580C>A	GRCh37
NC_000017.9:g.55582362C>A	NCBI36
NG_012050.1:g.5279C>A
NG_012050.2:g.5279C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.58+127C>A MANE Select	ENSP00000300900.3:n.58+127C>A
ENST00000300900.8:c.58+127C>A	ENSP00000300900.3:n.58+127C>A
ENST00000585705.5:n.151+127C>A
ENST00000586876.1:c.58+127C>A	ENSP00000467465.1:n.58+127C>A
ENST00000591725.1:c.-301+127C>A	ENSP00000466964.1:n.-301+127C>A
NM_000717.3:c.58+127C>A	NP_000708.1:n.58+127C>A
XM_005257639.1:c.58+127C>A	XP_005257696.1:n.58+127C>A
NM_000717.4:c.58+127C>A	NP_000708.1:n.58+127C>A
NR_137422.1:n.157+127C>A
XM_005257639.3:c.58+127C>A	XP_005257696.1:n.58+127C>A
XR_001752604.2:n.151+127C>A
XR_001752605.2:n.151+127C>A
XR_001752606.2:n.151+127C>A
XR_001752607.2:n.151+127C>A
XR_001752608.2:n.151+127C>A
XR_001752609.2:n.151+127C>A
XR_001752610.2:n.151+127C>A
NM_000717.5:c.58+127C>A MANE Select	NP_000708.1:n.58+127C>A
NR_137422.2:n.120+127C>A