Canonical Allele Identifier: CA8685180

Gene: CA4

Linked Data

• dbSNP Id: rs779830439
• ExAC: 17:58227455 T / C
• gnomAD v2: 17-58227455-T-C
• gnomAD v4: 17-60150094-T-C
• MyVariant Identifiers: chr17:g.58227455T>C (hg19) ; chr17:g.60150094T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60150094T>C , CM000679.2:g.60150094T>C	GRCh38
NC_000017.10:g.58227455T>C , CM000679.1:g.58227455T>C	GRCh37
NC_000017.9:g.55582237T>C	NCBI36
NG_012050.1:g.5154T>C
NG_012050.2:g.5154T>C

Transcript Alleles

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