Canonical Allele Identifier: CA501125111

Gene: CA4

Linked Data

• gnomAD v4: 17-60150056-C-T
• MyVariant Identifiers: chr17:g.58227417C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60150056C>T , CM000679.2:g.60150056C>T	GRCh38
NC_000017.10:g.58227417C>T , CM000679.1:g.58227417C>T	GRCh37
NC_000017.9:g.55582199C>T	NCBI36
NG_012050.1:g.5116C>T
NG_012050.2:g.5116C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.22C>T MANE Select	ENSP00000300900.3:p.Leu8=
ENST00000300900.8:c.22C>T	ENSP00000300900.3:p.Leu8=
ENST00000585705.5:n.115C>T
ENST00000586876.1:c.22C>T	ENSP00000467465.1:p.Leu8=
ENST00000591725.1:c.-337C>T	ENSP00000466964.1:n.-337C>T
NM_000717.3:c.22C>T	NP_000708.1:p.Leu8=
XM_005257639.1:c.22C>T	XP_005257696.1:p.Leu8=
NM_000717.4:c.22C>T	NP_000708.1:p.Leu8=
NR_137422.1:n.121C>T
XM_005257639.3:c.22C>T	XP_005257696.1:p.Leu8=
XR_001752604.2:n.115C>T
XR_001752605.2:n.115C>T
XR_001752606.2:n.115C>T
XR_001752607.2:n.115C>T
XR_001752608.2:n.115C>T
XR_001752609.2:n.115C>T
XR_001752610.2:n.115C>T
NM_000717.5:c.22C>T MANE Select	NP_000708.1:p.Leu8=
NR_137422.2:n.84C>T