Canonical Allele Identifier: CA2639096214

Gene: CA4

Linked Data

• gnomAD v4: 17-60150109-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60150109C>T , CM000679.2:g.60150109C>T	GRCh38
NC_000017.10:g.58227470C>T , CM000679.1:g.58227470C>T	GRCh37
NC_000017.9:g.55582252C>T	NCBI36
NG_012050.1:g.5169C>T
NG_012050.2:g.5169C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.58+17C>T MANE Select	ENSP00000300900.3:n.58+17C>T
ENST00000300900.8:c.58+17C>T	ENSP00000300900.3:n.58+17C>T
ENST00000585705.5:n.151+17C>T
ENST00000586876.1:c.58+17C>T	ENSP00000467465.1:n.58+17C>T
ENST00000591725.1:c.-301+17C>T	ENSP00000466964.1:n.-301+17C>T
NM_000717.3:c.58+17C>T	NP_000708.1:n.58+17C>T
XM_005257639.1:c.58+17C>T	XP_005257696.1:n.58+17C>T
NM_000717.4:c.58+17C>T	NP_000708.1:n.58+17C>T
NR_137422.1:n.157+17C>T
XM_005257639.3:c.58+17C>T	XP_005257696.1:n.58+17C>T
XR_001752604.2:n.151+17C>T
XR_001752605.2:n.151+17C>T
XR_001752606.2:n.151+17C>T
XR_001752607.2:n.151+17C>T
XR_001752608.2:n.151+17C>T
XR_001752609.2:n.151+17C>T
XR_001752610.2:n.151+17C>T
NM_000717.5:c.58+17C>T MANE Select	NP_000708.1:n.58+17C>T
NR_137422.2:n.120+17C>T