Canonical Allele Identifier: CA8685269

Gene: CA4

Linked Data

• ClinVar Variation Id: 324228
• ClinVar RCV Id: RCV000339997 ; RCV002524432
• dbSNP Id: rs531909330
• ExAC: 17:58234043 C / A
• gnomAD v2: 17-58234043-C-A
• gnomAD v3: 17-60156682-C-A
• gnomAD v4: 17-60156682-C-A
• MyVariant Identifiers: chr17:g.58234043C>A (hg19) ; chr17:g.60156682C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60156682C>A , CM000679.2:g.60156682C>A	GRCh38
NC_000017.10:g.58234043C>A , CM000679.1:g.58234043C>A	GRCh37
NC_000017.9:g.55588825C>A	NCBI36
NG_012050.1:g.11742C>A
NG_012050.2:g.11742C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.235C>A MANE Select	ENSP00000300900.3:p.Gln79Lys
ENST00000300900.8:c.235C>A	ENSP00000300900.3:p.Gln79Lys
ENST00000585705.5:n.328C>A
ENST00000586876.1:c.235C>A	ENSP00000467465.1:p.Gln79Lys
ENST00000591725.1:c.-36C>A	ENSP00000466964.1:n.-36C>A
NM_000717.3:c.235C>A	NP_000708.1:p.Gln79Lys
XM_005257639.1:c.235C>A	XP_005257696.1:p.Gln79Lys
XM_011525183.1:c.-36C>A	XP_011523485.1:n.-36C>A
NM_000717.4:c.235C>A	NP_000708.1:p.Gln79Lys
NR_137422.1:n.334C>A
XM_005257639.3:c.235C>A	XP_005257696.1:p.Gln79Lys
XM_011525183.2:c.-36C>A	XP_011523485.1:n.-36C>A
XM_017025012.1:c.-36C>A	XP_016880501.1:n.-36C>A
XR_001752604.2:n.328C>A
XR_001752605.2:n.328C>A
XR_001752606.2:n.328C>A
XR_001752607.2:n.328C>A
XR_001752608.2:n.328C>A
XR_001752609.2:n.328C>A
XR_001752610.2:n.328C>A
NM_000717.5:c.235C>A MANE Select	NP_000708.1:p.Gln79Lys
NR_137422.2:n.297C>A