Canonical Allele Identifier: CA566530721
Gene: CDKN1A HGNC NCBI

Linked Data

dbSNP Id: rs1438714914
gnomAD v2: 6-36648795-G-C
gnomAD v3: 6-36681018-G-C
gnomAD v4: 6-36681018-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.36681018G>C , CM000668.2:g.36681018G>C GRCh38
NC_000006.11:g.36648795G>C , CM000668.1:g.36648795G>C GRCh37
NC_000006.10:g.36756773G>C NCBI36
NG_009364.1:g.7337G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000244741.10:c.-6+2220G>C MANE Select ENSP00000244741.6:n.-6+2220G>C
ENST00000244741.9:c.-6+2220G>C ENSP00000244741.5:n.-6+2220G>C
ENST00000373711.3:c.-96-1622G>C ENSP00000362815.1:n.-96-1622G>C
ENST00000405375.5:c.-6+2079G>C ENSP00000384849.1:n.-6+2079G>C
ENST00000448526.6:c.-5-3079G>C ENSP00000409259.3:n.-5-3079G>C
ENST00000459970.1:n.190-3079G>C
ENST00000478800.1:n.214+2079G>C
ENST00000615513.4:c.-5-3079G>C ENSP00000482768.1:n.-5-3079G>C
NM_000389.4:c.-6+2220G>C NP_000380.1:n.-6+2220G>C
NM_001220777.1:c.-5-3079G>C NP_001207706.1:n.-5-3079G>C
NM_001220778.1:c.-6+2079G>C NP_001207707.1:n.-6+2079G>C
NM_001291549.1:c.98-3079G>C NP_001278478.1:n.98-3079G>C
NM_078467.2:c.-5-3079G>C NP_510867.1:n.-5-3079G>C
XM_011515041.1:c.*164G>C XP_011513343.1:n.*164G>C
NM_000389.5:c.-6+2220G>C MANE Select NP_000380.1:n.-6+2220G>C
NM_001220777.2:c.-5-3079G>C NP_001207706.1:n.-5-3079G>C
NM_001220778.2:c.-6+2079G>C NP_001207707.1:n.-6+2079G>C
NM_001291549.3:c.98-3079G>C NP_001278478.1:n.98-3079G>C
NM_001374509.1:c.98-3079G>C NP_001361438.1:n.98-3079G>C
NM_001374510.1:c.35-3079G>C NP_001361439.1:n.35-3079G>C
NM_001374511.1:c.-6+2220G>C NP_001361440.1:n.-6+2220G>C
NM_001374512.1:c.-6+2220G>C NP_001361441.1:n.-6+2220G>C
NM_001374513.1:c.-6+2113G>C NP_001361442.1:n.-6+2113G>C
NM_078467.3:c.-5-3079G>C NP_510867.1:n.-5-3079G>C