Canonical Allele Identifier: CA1122164549

Gene: CDKN2A

Linked Data

• dbSNP Id: rs780422463
• gnomAD v3: 9-21988535-C-A
• gnomAD v4: 9-21988535-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21988535C>A , CM000671.2:g.21988535C>A	GRCh38
NC_000009.11:g.21988534C>A , CM000671.1:g.21988534C>A	GRCh37
NC_000009.10:g.21978534C>A	NCBI36
NG_007485.1:g.10957G>T , LRG_11:g.10957G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.348-40898C>A	ENSP00000385916.2:n.348-40898C>A
ENST00000579755.2:c.193+5604G>T MANE Plus Clinical	ENSP00000462950.1:n.193+5604G>T
ENST00000361570.4:c.193+5604G>T	ENSP00000355153.4:n.193+5604G>T
ENST00000404796.2:c.348-40898C>A	ENSP00000385916.2:n.348-40898C>A
ENST00000494262.5:c.-4+5347G>T	ENSP00000464952.1:n.-4+5347G>T
ENST00000498628.6:c.-4+6286G>T	ENSP00000467857.1:n.-4+6286G>T
ENST00000530628.2:c.193+5604G>T	ENSP00000432664.2:n.193+5604G>T
ENST00000579755.1:c.193+5604G>T	ENSP00000462950.1:n.193+5604G>T
NM_058195.3:c.193+5604G>T , LRG_11t2:c.193+5604G>T	NP_478102.2:n.193+5604G>T
XM_011517678.1:c.*1395G>T	XP_011515980.1:n.*1395G>T
XM_011517679.1:c.-4+6286G>T	XP_011515981.1:n.-4+6286G>T
XR_929161.1:n.340+5604G>T
XR_929162.1:n.340+5604G>T
XR_929163.1:n.289+5604G>T
NM_001363763.1:c.-4+6286G>T	NP_001350692.1:n.-4+6286G>T
NM_001363763.2:c.-4+6286G>T	NP_001350692.1:n.-4+6286G>T
NM_058195.4:c.193+5604G>T MANE Plus Clinical	NP_478102.2:n.193+5604G>T