Canonical Allele Identifier: CA258046

Gene: CA4

Linked Data

• ClinVar Variation Id: 17609
• ClinVar RCV Id: RCV000019175 ; RCV002513116 ; RCV003887874
• dbSNP Id: rs121434552
• ExAC: 17:58234014 G / A
• gnomAD v2: 17-58234014-G-A
• gnomAD v4: 17-60156653-G-A
• COSMIC: COSM437050
• MyVariant Identifiers: chr17:g.58234014G>A (hg19) ; chr17:g.58234014_58234017delinsACTT (hg19) ; chr17:g.60156653G>A (hg38)
• PubMed: PMID:17652713

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60156653G>A , CM000679.2:g.60156653G>A	GRCh38
NC_000017.10:g.58234014G>A , CM000679.1:g.58234014G>A	GRCh37
NC_000017.9:g.55588796G>A	NCBI36
NG_012050.1:g.11713G>A
NG_012050.2:g.11713G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000300900.9:c.206G>A MANE Select	ENSP00000300900.3:p.Arg69His
ENST00000300900.8:c.206G>A	ENSP00000300900.3:p.Arg69His
ENST00000585705.5:n.299G>A
ENST00000586876.1:c.206G>A	ENSP00000467465.1:p.Arg69His
ENST00000591725.1:c.-65G>A	ENSP00000466964.1:n.-65G>A
NM_000717.3:c.206G>A	NP_000708.1:p.Arg69His
XM_005257639.1:c.206G>A	XP_005257696.1:p.Arg69His
XM_011525183.1:c.-65G>A	XP_011523485.1:n.-65G>A
NM_000717.4:c.206G>A	NP_000708.1:p.Arg69His
NR_137422.1:n.305G>A
XM_005257639.3:c.206G>A	XP_005257696.1:p.Arg69His
XM_011525183.2:c.-65G>A	XP_011523485.1:n.-65G>A
XM_017025012.1:c.-65G>A	XP_016880501.1:n.-65G>A
XR_001752604.2:n.299G>A
XR_001752605.2:n.299G>A
XR_001752606.2:n.299G>A
XR_001752607.2:n.299G>A
XR_001752608.2:n.299G>A
XR_001752609.2:n.299G>A
XR_001752610.2:n.299G>A
NM_000717.5:c.206G>A MANE Select	NP_000708.1:p.Arg69His
NR_137422.2:n.268G>A