Canonical Allele Identifier: CA501126093

Gene: CA4

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60158401C>T , CM000679.2:g.60158401C>T	GRCh38
NC_000017.10:g.58235762C>T , CM000679.1:g.58235762C>T	GRCh37
NC_000017.9:g.55590544C>T	NCBI36
NG_012050.1:g.13461C>T
NG_012050.2:g.13461C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000717.5:c.699C>T MANE Select	NP_000708.1:p.Val233=
ENST00000300900.9:c.699C>T MANE Select	ENSP00000300900.3:p.Val233=
NM_000717.3:c.699C>T	NP_000708.1:p.Val233=
NM_000717.4:c.699C>T	NP_000708.1:p.Val233=
NR_137422.1:n.798C>T
NR_137422.2:n.761C>T
ENST00000300900.8:c.699C>T	ENSP00000300900.3:p.Val233=
ENST00000586876.1:c.*133C>T	ENSP00000467465.1:n.*133C>T
ENST00000587265.1:c.139C>T
ENST00000590203.1:c.315C>T	ENSP00000465837.1:p.Val105=
XM_005257639.1:c.771C>T	XP_005257696.1:p.Val257=
XM_005257639.3:c.771C>T	XP_005257696.1:p.Val257=
XM_011525183.1:c.501C>T	XP_011523485.1:p.Val167=
XM_011525183.2:c.501C>T	XP_011523485.1:p.Val167=
XM_017025012.1:c.429C>T	XP_016880501.1:p.Val143=
XR_001752604.2:n.864C>T
XR_001752605.2:n.864C>T
XR_001752606.2:n.864C>T
XR_001752607.2:n.792C>T
XR_001752608.2:n.792C>T
XR_001752609.2:n.792C>T
XR_001752610.2:n.792C>T