Canonical Allele Identifier: CA8685530

Gene: CA4

Linked Data

• ClinVar Variation Id: 324237
• ClinVar RCV Id: RCV000262451 ; RCV001210788
• dbSNP Id: rs150432787
• ExAC: 17:58236607 A / C
• gnomAD v2: 17-58236607-A-C
• gnomAD v3: 17-60159246-A-C
• gnomAD v4: 17-60159246-A-C
• MyVariant Identifiers: chr17:g.58236607A>C (hg19) ; chr17:g.60159246A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60159246A>C , CM000679.2:g.60159246A>C	GRCh38
NC_000017.10:g.58236607A>C , CM000679.1:g.58236607A>C	GRCh37
NC_000017.9:g.55591389A>C	NCBI36
NG_012050.1:g.14306A>C
NG_012050.2:g.14306A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.761A>C MANE Select	ENSP00000300900.3:p.Gln254Pro
ENST00000300900.8:c.761A>C	ENSP00000300900.3:p.Gln254Pro
ENST00000586876.1:c.*178+800A>C	ENSP00000467465.1:n.*178+800A>C
ENST00000590203.1:c.377A>C	ENSP00000465837.1:p.Gln126Pro
NM_000717.3:c.761A>C	NP_000708.1:p.Gln254Pro
XM_005257639.1:c.833A>C	XP_005257696.1:p.Gln278Pro
XM_011525183.1:c.563A>C	XP_011523485.1:p.Gln188Pro
NM_000717.4:c.761A>C	NP_000708.1:p.Gln254Pro
NR_137422.1:n.860A>C
XM_005257639.3:c.833A>C	XP_005257696.1:p.Gln278Pro
XM_011525183.2:c.563A>C	XP_011523485.1:p.Gln188Pro
XM_017025012.1:c.491A>C	XP_016880501.1:p.Gln164Pro
XR_001752604.2:n.926A>C
XR_001752605.2:n.926A>C
XR_001752606.2:n.926A>C
XR_001752607.2:n.854A>C
XR_001752608.2:n.854A>C
XR_001752609.2:n.854A>C
XR_001752610.2:n.854A>C
NM_000717.5:c.761A>C MANE Select	NP_000708.1:p.Gln254Pro
NR_137422.2:n.823A>C