Canonical Allele Identifier: CA626783289

Gene: CA4

Linked Data

• dbSNP Id: rs1448547486
• gnomAD v2: 17-58227639-G-T
• gnomAD v3: 17-60150278-G-T
• gnomAD v4: 17-60150278-G-T
• MyVariant Identifiers: chr17:g.58227639G>T (hg19) ; chr17:g.60150278G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60150278G>T , CM000679.2:g.60150278G>T	GRCh38
NC_000017.10:g.58227639G>T , CM000679.1:g.58227639G>T	GRCh37
NC_000017.9:g.55582421G>T	NCBI36
NG_012050.1:g.5338G>T
NG_012050.2:g.5338G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.58+186G>T MANE Select	ENSP00000300900.3:n.58+186G>T
ENST00000300900.8:c.58+186G>T	ENSP00000300900.3:n.58+186G>T
ENST00000585705.5:n.151+186G>T
ENST00000586876.1:c.58+186G>T	ENSP00000467465.1:n.58+186G>T
ENST00000591725.1:c.-301+186G>T	ENSP00000466964.1:n.-301+186G>T
NM_000717.3:c.58+186G>T	NP_000708.1:n.58+186G>T
XM_005257639.1:c.58+186G>T	XP_005257696.1:n.58+186G>T
NM_000717.4:c.58+186G>T	NP_000708.1:n.58+186G>T
NR_137422.1:n.157+186G>T
XM_005257639.3:c.58+186G>T	XP_005257696.1:n.58+186G>T
XR_001752604.2:n.151+186G>T
XR_001752605.2:n.151+186G>T
XR_001752606.2:n.151+186G>T
XR_001752607.2:n.151+186G>T
XR_001752608.2:n.151+186G>T
XR_001752609.2:n.151+186G>T
XR_001752610.2:n.151+186G>T
NM_000717.5:c.58+186G>T MANE Select	NP_000708.1:n.58+186G>T
NR_137422.2:n.120+186G>T