Canonical Allele Identifier: CA10582888

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 236975
• ClinVar RCV Id: RCV000227798 ; RCV002494616
• dbSNP Id: rs878853642
• gnomAD v2: 11-2905950-G-C
• gnomAD v4: 11-2884720-G-C
• MyVariant Identifiers: chr11:g.2905950G>C (hg19) ; chr11:g.2884720G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884720G>C , CM000673.2:g.2884720G>C	GRCh38
NC_000011.9:g.2905950G>C , CM000673.1:g.2905950G>C	GRCh37
NC_000011.8:g.2862526G>C	NCBI36
NG_008022.1:g.6046C>G , LRG_533:g.6046C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.143-586C>G
ENST00000380725.2:c.255+482C>G	ENSP00000370101.1:n.255+482C>G
ENST00000414822.8:c.770C>G	ENSP00000413720.3:p.Ala257Gly
ENST00000430149.3:c.770C>G	ENSP00000411552.2:p.Ala257Gly
ENST00000440480.8:c.737C>G MANE Select	ENSP00000411257.2:p.Ala246Gly
ENST00000647251.1:c.255+482C>G	ENSP00000496631.1:n.255+482C>G
ENST00000380725.1:c.255+482C>G	ENSP00000370101.1:n.255+482C>G
ENST00000414822.7:c.770C>G	ENSP00000413720.3:p.Ala257Gly
ENST00000430149.2:c.770C>G	ENSP00000411552.2:p.Ala257Gly
ENST00000440480.6:c.737C>G	ENSP00000411257.2:p.Ala246Gly
NM_000076.2:c.770C>G , LRG_533t1:c.770C>G	NP_000067.1:p.Ala257Gly
NM_001122630.1:c.737C>G	NP_001116102.1:p.Ala246Gly
NM_001122631.1:c.737C>G	NP_001116103.1:p.Ala246Gly
XM_005252732.3:c.255+482C>G	XP_005252789.1:n.255+482C>G
NM_001362474.1:c.770C>G	NP_001349403.1:p.Ala257Gly
NM_001362475.1:c.255+482C>G	NP_001349404.1:n.255+482C>G
NM_001122630.2:c.737C>G MANE Select	NP_001116102.1:p.Ala246Gly
NM_001122631.2:c.737C>G	NP_001116103.1:p.Ala246Gly
NM_001362474.2:c.770C>G	NP_001349403.1:p.Ala257Gly
NM_001362475.2:c.255+482C>G	NP_001349404.1:n.255+482C>G