Canonical Allele Identifier: CA292207865

Gene: CA4

Linked Data

• ClinVar Variation Id: 445984
• ClinVar RCV Id: RCV000514784 ; RCV001002128 ; RCV003935357
• dbSNP Id: rs530720914
• gnomAD v2: 17-58236844-G-A
• gnomAD v3: 17-60159483-G-A
• gnomAD v4: 17-60159483-G-A
• MyVariant Identifiers: chr17:g.58236844G>A (hg19) ; chr17:g.60159483G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60159483G>A , CM000679.2:g.60159483G>A	GRCh38
NC_000017.10:g.58236844G>A , CM000679.1:g.58236844G>A	GRCh37
NC_000017.9:g.55591626G>A	NCBI36
NG_012050.1:g.14543G>A
NG_012050.2:g.14543G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.*59G>A MANE Select	ENSP00000300900.3:n.*59G>A
ENST00000300900.8:c.*59G>A	ENSP00000300900.3:n.*59G>A
ENST00000586876.1:c.*178+1037G>A	ENSP00000467465.1:n.*178+1037G>A
ENST00000590203.1:c.614G>A	ENSP00000465837.1:n.614G>A
NM_000717.3:c.*59G>A	NP_000708.1:n.*59G>A
XM_005257639.1:c.*59G>A	XP_005257696.1:n.*59G>A
XM_011525183.1:c.*59G>A	XP_011523485.1:n.*59G>A
NM_000717.4:c.*59G>A	NP_000708.1:n.*59G>A
NR_137422.1:n.1097G>A
XM_005257639.3:c.*59G>A	XP_005257696.1:n.*59G>A
XM_011525183.2:c.*59G>A	XP_011523485.1:n.*59G>A
XM_017025012.1:c.*59G>A	XP_016880501.1:n.*59G>A
XR_001752604.2:n.1163G>A
XR_001752605.2:n.1163G>A
XR_001752606.2:n.1163G>A
XR_001752607.2:n.1091G>A
XR_001752608.2:n.1091G>A
XR_001752609.2:n.1091G>A
XR_001752610.2:n.1091G>A
NM_000717.5:c.*59G>A MANE Select	NP_000708.1:n.*59G>A
NR_137422.2:n.1060G>A