Canonical Allele Identifier: CA8685182

Gene: CA4

Linked Data

• ClinVar Variation Id: 1170906
• ClinVar RCV Id: RCV001523679
• dbSNP Id: rs189605211
• ExAC: 17:58227471 G / C
• gnomAD v2: 17-58227471-G-C
• gnomAD v3: 17-60150110-G-C
• gnomAD v4: 17-60150110-G-C
• MyVariant Identifiers: chr17:g.58227471G>C (hg19) ; chr17:g.58227471_58227473delinsCGC (hg19) ; chr17:g.60150110G>C (hg38) ; chr17:g.60150110_60150112delinsCGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60150110G>C , CM000679.2:g.60150110G>C	GRCh38
NC_000017.10:g.58227471G>C , CM000679.1:g.58227471G>C	GRCh37
NC_000017.9:g.55582253G>C	NCBI36
NG_012050.1:g.5170G>C
NG_012050.2:g.5170G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.58+18G>C MANE Select	ENSP00000300900.3:n.58+18G>C
ENST00000300900.8:c.58+18G>C	ENSP00000300900.3:n.58+18G>C
ENST00000585705.5:n.151+18G>C
ENST00000586876.1:c.58+18G>C	ENSP00000467465.1:n.58+18G>C
ENST00000591725.1:c.-301+18G>C	ENSP00000466964.1:n.-301+18G>C
NM_000717.3:c.58+18G>C	NP_000708.1:n.58+18G>C
XM_005257639.1:c.58+18G>C	XP_005257696.1:n.58+18G>C
NM_000717.4:c.58+18G>C	NP_000708.1:n.58+18G>C
NR_137422.1:n.157+18G>C
XM_005257639.3:c.58+18G>C	XP_005257696.1:n.58+18G>C
XR_001752604.2:n.151+18G>C
XR_001752605.2:n.151+18G>C
XR_001752606.2:n.151+18G>C
XR_001752607.2:n.151+18G>C
XR_001752608.2:n.151+18G>C
XR_001752609.2:n.151+18G>C
XR_001752610.2:n.151+18G>C
NM_000717.5:c.58+18G>C MANE Select	NP_000708.1:n.58+18G>C
NR_137422.2:n.120+18G>C