Canonical Allele Identifier: CA8685563

Gene: CA4

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60159354C>T , CM000679.2:g.60159354C>T	GRCh38
NC_000017.10:g.58236715C>T , CM000679.1:g.58236715C>T	GRCh37
NC_000017.9:g.55591497C>T	NCBI36
NG_012050.1:g.14414C>T
NG_012050.2:g.14414C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000717.5:c.869C>T MANE Select	NP_000708.1:p.Pro290Leu
ENST00000300900.9:c.869C>T MANE Select	ENSP00000300900.3:p.Pro290Leu
NM_000717.3:c.869C>T	NP_000708.1:p.Pro290Leu
NM_000717.4:c.869C>T	NP_000708.1:p.Pro290Leu
NR_137422.1:n.968C>T
NR_137422.2:n.931C>T
ENST00000300900.8:c.869C>T	ENSP00000300900.3:p.Pro290Leu
ENST00000586876.1:c.*178+908C>T	ENSP00000467465.1:n.*178+908C>T
ENST00000590203.1:c.485C>T	ENSP00000465837.1:p.Pro162Leu
XM_005257639.1:c.941C>T	XP_005257696.1:p.Pro314Leu
XM_005257639.3:c.941C>T	XP_005257696.1:p.Pro314Leu
XM_011525183.1:c.671C>T	XP_011523485.1:p.Pro224Leu
XM_011525183.2:c.671C>T	XP_011523485.1:p.Pro224Leu
XM_017025012.1:c.599C>T	XP_016880501.1:p.Pro200Leu
XR_001752604.2:n.1034C>T
XR_001752605.2:n.1034C>T
XR_001752606.2:n.1034C>T
XR_001752607.2:n.962C>T
XR_001752608.2:n.962C>T
XR_001752609.2:n.962C>T
XR_001752610.2:n.962C>T