Canonical Allele Identifier: CA8685162

Gene: CA4

Linked Data

• ClinVar Variation Id: 324224
• ClinVar RCV Id: RCV000375976
• dbSNP Id: rs367981628
• ExAC: 17:58227349 C / G
• gnomAD v2: 17-58227349-C-G
• gnomAD v3: 17-60149988-C-G
• gnomAD v4: 17-60149988-C-G
• MyVariant Identifiers: chr17:g.58227349C>G (hg19) ; chr17:g.60149988C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60149988C>G , CM000679.2:g.60149988C>G	GRCh38
NC_000017.10:g.58227349C>G , CM000679.1:g.58227349C>G	GRCh37
NC_000017.9:g.55582131C>G	NCBI36
NG_012050.1:g.5048C>G
NG_012050.2:g.5048C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000300900.9:c.-47C>G MANE Select	ENSP00000300900.3:n.-47C>G
ENST00000300900.8:c.-47C>G	ENSP00000300900.3:n.-47C>G
ENST00000585705.5:n.47C>G
ENST00000586876.1:c.-47C>G	ENSP00000467465.1:n.-47C>G
ENST00000591725.1:c.-405C>G	ENSP00000466964.1:n.-405C>G
NM_000717.3:c.-47C>G	NP_000708.1:n.-47C>G
XM_005257639.1:c.-47C>G	XP_005257696.1:n.-47C>G
NM_000717.4:c.-47C>G	NP_000708.1:n.-47C>G
NR_137422.1:n.53C>G
XM_005257639.3:c.-47C>G	XP_005257696.1:n.-47C>G
XR_001752604.2:n.47C>G
XR_001752605.2:n.47C>G
XR_001752606.2:n.47C>G
XR_001752607.2:n.47C>G
XR_001752608.2:n.47C>G
XR_001752609.2:n.47C>G
XR_001752610.2:n.47C>G
NM_000717.5:c.-47C>G MANE Select	NP_000708.1:n.-47C>G
NR_137422.2:n.16C>G