Canonical Allele Identifier: CA258045

Gene: CA4

Linked Data

• ClinVar Variation Id: 17608
• ClinVar RCV Id: RCV000019174
• dbSNP Id: rs121434551
• gnomAD v2: 17-58235718-C-A
• gnomAD v3: 17-60158357-C-A
• gnomAD v4: 17-60158357-C-A
• MyVariant Identifiers: chr17:g.58235718C>A (hg19) ; chr17:g.60158357C>A (hg38)
• PubMed: PMID:15563508

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60158357C>A , CM000679.2:g.60158357C>A	GRCh38
NC_000017.10:g.58235718C>A , CM000679.1:g.58235718C>A	GRCh37
NC_000017.9:g.55590500C>A	NCBI36
NG_012050.1:g.13417C>A
NG_012050.2:g.13417C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.655C>A MANE Select	ENSP00000300900.3:p.Arg219Ser
ENST00000300900.8:c.655C>A	ENSP00000300900.3:p.Arg219Ser
ENST00000586876.1:c.*89C>A	ENSP00000467465.1:n.*89C>A
ENST00000587265.1:c.95C>A
ENST00000590203.1:c.271C>A	ENSP00000465837.1:p.Arg91Ser
NM_000717.3:c.655C>A	NP_000708.1:p.Arg219Ser
XM_005257639.1:c.727C>A	XP_005257696.1:p.Arg243Ser
XM_011525183.1:c.457C>A	XP_011523485.1:p.Arg153Ser
NM_000717.4:c.655C>A	NP_000708.1:p.Arg219Ser
NR_137422.1:n.754C>A
XM_005257639.3:c.727C>A	XP_005257696.1:p.Arg243Ser
XM_011525183.2:c.457C>A	XP_011523485.1:p.Arg153Ser
XM_017025012.1:c.385C>A	XP_016880501.1:p.Arg129Ser
XR_001752604.2:n.820C>A
XR_001752605.2:n.820C>A
XR_001752606.2:n.820C>A
XR_001752607.2:n.748C>A
XR_001752608.2:n.748C>A
XR_001752609.2:n.748C>A
XR_001752610.2:n.748C>A
NM_000717.5:c.655C>A MANE Select	NP_000708.1:p.Arg219Ser
NR_137422.2:n.717C>A