Canonical Allele Identifier: CA5822239

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 236949
• ClinVar RCV Id: RCV000226565 ; RCV000246345 ; RCV002503883
• dbSNP Id: rs149717696
• ExAC: 11:2906588 G / A
• gnomAD v2: 11-2906588-G-A
• gnomAD v3: 11-2885358-G-A
• gnomAD v4: 11-2885358-G-A
• MyVariant Identifiers: chr11:g.2906588G>A (hg19) ; chr11:g.2885358G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2885358G>A , CM000673.2:g.2885358G>A	GRCh38
NC_000011.9:g.2906588G>A , CM000673.1:g.2906588G>A	GRCh37
NC_000011.8:g.2863164G>A	NCBI36
NG_008022.1:g.5408C>T , LRG_533:g.5408C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681969.1:n.142+276C>T
ENST00000380725.2:c.99C>T	ENSP00000370101.1:p.Arg33=
ENST00000414822.8:c.132C>T	ENSP00000413720.3:p.Arg44=
ENST00000430149.3:c.132C>T	ENSP00000411552.2:p.Arg44=
ENST00000440480.8:c.99C>T MANE Select	ENSP00000411257.2:p.Arg33=
ENST00000647251.1:c.99C>T	ENSP00000496631.1:p.Arg33=
ENST00000380725.1:c.99C>T	ENSP00000370101.1:p.Arg33=
ENST00000414822.7:c.132C>T	ENSP00000413720.3:p.Arg44=
ENST00000430149.2:c.132C>T	ENSP00000411552.2:p.Arg44=
ENST00000440480.6:c.99C>T	ENSP00000411257.2:p.Arg33=
NM_000076.2:c.132C>T , LRG_533t1:c.132C>T	NP_000067.1:p.Arg44=
NM_001122630.1:c.99C>T	NP_001116102.1:p.Arg33=
NM_001122631.1:c.99C>T	NP_001116103.1:p.Arg33=
XM_005252732.3:c.99C>T	XP_005252789.1:p.Arg33=
NM_001362474.1:c.132C>T	NP_001349403.1:p.Arg44=
NM_001362475.1:c.99C>T	NP_001349404.1:p.Arg33=
NM_001122630.2:c.99C>T MANE Select	NP_001116102.1:p.Arg33=
NM_001122631.2:c.99C>T	NP_001116103.1:p.Arg33=
NM_001362474.2:c.132C>T	NP_001349403.1:p.Arg44=
NM_001362475.2:c.99C>T	NP_001349404.1:p.Arg33=