Canonical Allele Identifier: CA2573147600

Gene: PC

Linked Data

• ClinVar Variation Id: 1653727
• ClinVar RCV Id: RCV002161334
• dbSNP Id: rs2135796905
• gnomAD v4: 11-66850468-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66850468C>T , CM000673.2:g.66850468C>T	GRCh38
NC_000011.9:g.66617939C>T , CM000673.1:g.66617939C>T	GRCh37
NC_000011.8:g.66374515C>T	NCBI36
NG_008319.1:g.112909G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393958.7:c.2474-4G>A	ENSP00000377530.2:n.2474-4G>A
ENST00000393960.7:c.2474-4G>A MANE Select	ENSP00000377532.1:n.2474-4G>A
ENST00000525476.2:n.290-403G>A
ENST00000528224.2:c.*483-4G>A	ENSP00000498317.1:n.*483-4G>A
ENST00000529047.6:c.2474-4G>A	ENSP00000435905.2:n.2474-4G>A
ENST00000651036.1:c.2474-4G>A	ENSP00000498406.1:n.2474-4G>A
ENST00000651469.1:c.*950-4G>A	ENSP00000498712.1:n.*950-4G>A
ENST00000651854.1:c.2474-4G>A	ENSP00000498994.1:n.2474-4G>A
ENST00000652125.1:c.2474-4G>A	ENSP00000498302.1:n.2474-4G>A
ENST00000393955.6:c.2474-4G>A	ENSP00000377527.2:n.2474-4G>A
ENST00000393958.6:c.2474-4G>A	ENSP00000377530.2:n.2474-4G>A
ENST00000393960.5:c.2474-4G>A	ENSP00000377532.1:n.2474-4G>A
NM_000920.3:c.2474-4G>A	NP_000911.2:n.2474-4G>A
NM_001040716.1:c.2474-4G>A	NP_001035806.1:n.2474-4G>A
NM_022172.2:c.2474-4G>A	NP_071504.2:n.2474-4G>A
XM_005274031.3:c.2474-4G>A	XP_005274088.1:n.2474-4G>A
XM_005274032.3:c.2474-4G>A	XP_005274089.1:n.2474-4G>A
XM_006718577.2:c.2474-4G>A	XP_006718640.1:n.2474-4G>A
XM_006718578.2:c.2474-4G>A	XP_006718641.1:n.2474-4G>A
XM_006718579.2:c.953-4G>A	XP_006718642.1:n.953-4G>A
XM_011545085.1:c.2474-4G>A	XP_011543387.1:n.2474-4G>A
XM_011545086.1:c.2474-4G>A	XP_011543388.1:n.2474-4G>A
XM_011545087.1:c.1178-4G>A	XP_011543389.1:n.1178-4G>A
XM_011545088.1:c.1109-4G>A	XP_011543390.1:n.1109-4G>A
XM_005274031.4:c.2474-4G>A	XP_005274088.1:n.2474-4G>A
XM_005274032.4:c.2474-4G>A	XP_005274089.1:n.2474-4G>A
XM_006718578.3:c.2474-4G>A	XP_006718641.1:n.2474-4G>A
XM_006718579.3:c.953-4G>A	XP_006718642.1:n.953-4G>A
XM_011545086.2:c.2474-4G>A	XP_011543388.1:n.2474-4G>A
XM_011545087.2:c.1178-4G>A	XP_011543389.1:n.1178-4G>A
XM_017017868.1:c.2474-4G>A	XP_016873357.1:n.2474-4G>A
XM_017017869.1:c.2474-4G>A	XP_016873358.1:n.2474-4G>A
XM_017017870.1:c.2474-4G>A	XP_016873359.1:n.2474-4G>A
XM_017017871.1:c.2474-4G>A	XP_016873360.1:n.2474-4G>A
XM_017017872.2:c.2474-4G>A	XP_016873361.1:n.2474-4G>A
NM_000920.4:c.2474-4G>A	NP_000911.2:n.2474-4G>A
NM_001040716.2:c.2474-4G>A MANE Select	NP_001035806.1:n.2474-4G>A
NM_022172.3:c.2474-4G>A	NP_071504.2:n.2474-4G>A