Canonical Allele Identifier: CA379146352

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 1491717
• ClinVar RCV Id: RCV001988849
• dbSNP Id: rs2133783351
• gnomAD v4: 11-2884889-C-T
• MyVariant Identifiers: chr11:g.2906119C>T (hg19) ; chr11:g.2884889C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884889C>T , CM000673.2:g.2884889C>T	GRCh38
NC_000011.9:g.2906119C>T , CM000673.1:g.2906119C>T	GRCh37
NC_000011.8:g.2862695C>T	NCBI36
NG_008022.1:g.5877G>A , LRG_533:g.5877G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.142+745G>A
ENST00000380725.2:c.255+313G>A	ENSP00000370101.1:n.255+313G>A
ENST00000414822.8:c.601G>A	ENSP00000413720.3:p.Ala201Thr
ENST00000430149.3:c.601G>A	ENSP00000411552.2:p.Ala201Thr
ENST00000440480.8:c.568G>A MANE Select	ENSP00000411257.2:p.Ala190Thr
ENST00000647251.1:c.255+313G>A	ENSP00000496631.1:n.255+313G>A
ENST00000380725.1:c.255+313G>A	ENSP00000370101.1:n.255+313G>A
ENST00000414822.7:c.601G>A	ENSP00000413720.3:p.Ala201Thr
ENST00000430149.2:c.601G>A	ENSP00000411552.2:p.Ala201Thr
ENST00000440480.6:c.568G>A	ENSP00000411257.2:p.Ala190Thr
NM_000076.2:c.601G>A , LRG_533t1:c.601G>A	NP_000067.1:p.Ala201Thr
NM_001122630.1:c.568G>A	NP_001116102.1:p.Ala190Thr
NM_001122631.1:c.568G>A	NP_001116103.1:p.Ala190Thr
XM_005252732.3:c.255+313G>A	XP_005252789.1:n.255+313G>A
NM_001362474.1:c.601G>A	NP_001349403.1:p.Ala201Thr
NM_001362475.1:c.255+313G>A	NP_001349404.1:n.255+313G>A
NM_001122630.2:c.568G>A MANE Select	NP_001116102.1:p.Ala190Thr
NM_001122631.2:c.568G>A	NP_001116103.1:p.Ala190Thr
NM_001362474.2:c.601G>A	NP_001349403.1:p.Ala201Thr
NM_001362475.2:c.255+313G>A	NP_001349404.1:n.255+313G>A