Canonical Allele Identifier: CA626783265

Gene: CA4

Linked Data

• dbSNP Id: rs1193105692
• gnomAD v2: 17-58227366-G-A
• gnomAD v3: 17-60150005-G-A
• gnomAD v4: 17-60150005-G-A
• MyVariant Identifiers: chr17:g.58227366G>A (hg19) ; chr17:g.60150005G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60150005G>A , CM000679.2:g.60150005G>A	GRCh38
NC_000017.10:g.58227366G>A , CM000679.1:g.58227366G>A	GRCh37
NC_000017.9:g.55582148G>A	NCBI36
NG_012050.1:g.5065G>A
NG_012050.2:g.5065G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.-30G>A MANE Select	ENSP00000300900.3:n.-30G>A
ENST00000300900.8:c.-30G>A	ENSP00000300900.3:n.-30G>A
ENST00000585705.5:n.64G>A
ENST00000586876.1:c.-30G>A	ENSP00000467465.1:n.-30G>A
ENST00000591725.1:c.-388G>A	ENSP00000466964.1:n.-388G>A
NM_000717.3:c.-30G>A	NP_000708.1:n.-30G>A
XM_005257639.1:c.-30G>A	XP_005257696.1:n.-30G>A
NM_000717.4:c.-30G>A	NP_000708.1:n.-30G>A
NR_137422.1:n.70G>A
XM_005257639.3:c.-30G>A	XP_005257696.1:n.-30G>A
XR_001752604.2:n.64G>A
XR_001752605.2:n.64G>A
XR_001752606.2:n.64G>A
XR_001752607.2:n.64G>A
XR_001752608.2:n.64G>A
XR_001752609.2:n.64G>A
XR_001752610.2:n.64G>A
NM_000717.5:c.-30G>A MANE Select	NP_000708.1:n.-30G>A
NR_137422.2:n.33G>A