Canonical Allele Identifier: CA1122164677

Gene: CDKN2A

Linked Data

• dbSNP Id: rs1820363885
• gnomAD v3: 9-21989027-T-C
• gnomAD v4: 9-21989027-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21989027T>C , CM000671.2:g.21989027T>C	GRCh38
NC_000009.11:g.21989026T>C , CM000671.1:g.21989026T>C	GRCh37
NC_000009.10:g.21979026T>C	NCBI36
NG_007485.1:g.10465A>G , LRG_11:g.10465A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.348-40406T>C	ENSP00000385916.2:n.348-40406T>C
ENST00000579755.2:c.193+5112A>G MANE Plus Clinical	ENSP00000462950.1:n.193+5112A>G
ENST00000361570.4:c.193+5112A>G	ENSP00000355153.4:n.193+5112A>G
ENST00000404796.2:c.348-40406T>C	ENSP00000385916.2:n.348-40406T>C
ENST00000494262.5:c.-4+4855A>G	ENSP00000464952.1:n.-4+4855A>G
ENST00000498628.6:c.-4+5794A>G	ENSP00000467857.1:n.-4+5794A>G
ENST00000530628.2:c.193+5112A>G	ENSP00000432664.2:n.193+5112A>G
ENST00000579755.1:c.193+5112A>G	ENSP00000462950.1:n.193+5112A>G
NM_058195.3:c.193+5112A>G , LRG_11t2:c.193+5112A>G	NP_478102.2:n.193+5112A>G
XM_011517678.1:c.*903A>G	XP_011515980.1:n.*903A>G
XM_011517679.1:c.-4+5794A>G	XP_011515981.1:n.-4+5794A>G
XR_929161.1:n.340+5112A>G
XR_929162.1:n.340+5112A>G
XR_929163.1:n.289+5112A>G
NM_001363763.1:c.-4+5794A>G	NP_001350692.1:n.-4+5794A>G
NM_001363763.2:c.-4+5794A>G	NP_001350692.1:n.-4+5794A>G
NM_058195.4:c.193+5112A>G MANE Plus Clinical	NP_478102.2:n.193+5112A>G