Canonical Allele Identifier: CA10582911

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 236947
• ClinVar RCV Id: RCV000229473 ; RCV000763733 ; RCV001582760
• dbSNP Id: rs147317732
• gnomAD v2: 11-2906985-C-T
• gnomAD v3: 11-2885755-C-T
• gnomAD v4: 11-2885755-C-T
• MyVariant Identifiers: chr11:g.2906985C>T (hg19) ; chr11:g.2885755C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2885755C>T , CM000673.2:g.2885755C>T	GRCh38
NC_000011.9:g.2906985C>T , CM000673.1:g.2906985C>T	GRCh37
NC_000011.8:g.2863561C>T	NCBI36
NG_008022.1:g.5011G>A , LRG_533:g.5011G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.21G>A
ENST00000414822.8:c.-266G>A	ENSP00000413720.3:n.-266G>A
ENST00000430149.3:c.-266G>A	ENSP00000411552.2:n.-266G>A
ENST00000440480.8:c.-132G>A MANE Select	ENSP00000411257.2:n.-132G>A
ENST00000414822.7:c.-266G>A	ENSP00000413720.3:n.-266G>A
ENST00000430149.2:c.-266G>A	ENSP00000411552.2:n.-266G>A
ENST00000440480.6:c.-132G>A	ENSP00000411257.2:n.-132G>A
NM_000076.2:c.-266G>A , LRG_533t1:c.-266G>A	NP_000067.1:n.-266G>A
NM_001122630.1:c.-132G>A	NP_001116102.1:n.-132G>A
NM_001122631.1:c.-132G>A	NP_001116103.1:n.-132G>A
XM_005252732.3:c.-132G>A	XP_005252789.1:n.-132G>A
NM_001362474.1:c.-266G>A	NP_001349403.1:n.-266G>A
NM_001362475.1:c.-132G>A	NP_001349404.1:n.-132G>A
NM_001122630.2:c.-132G>A MANE Select	NP_001116102.1:n.-132G>A
NM_001122631.2:c.-132G>A	NP_001116103.1:n.-132G>A
NM_001362474.2:c.-266G>A	NP_001349403.1:n.-266G>A
NM_001362475.2:c.-132G>A	NP_001349404.1:n.-132G>A