Canonical Allele Identifier: CA223474524
Gene: CCND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3050562
ClinVar RCV Id: RCV003954606
dbSNP Id: rs760907398
gnomAD v3: 11-69648133-G-A
gnomAD v4: 11-69648133-G-A
MyVariant Identifiers: chr11:g.69462901G>A (hg19) chr11:g.69648133G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69648133G>A , CM000673.2:g.69648133G>A GRCh38
NC_000011.9:g.69462901G>A , CM000673.1:g.69462901G>A GRCh37
NC_000011.8:g.69172082G>A NCBI36
NG_007375.1:g.12029G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000227507.3:c.714G>A MANE Select ENSP00000227507.2:p.Lys238=
ENST00000227507.2:c.714G>A ENSP00000227507.2:p.Lys238=
ENST00000536559.1:c.*134G>A ENSP00000438482.1:n.*134G>A
ENST00000542367.1:n.177G>A
ENST00000545484.1:n.420G>A
NM_053056.2:c.714G>A NP_444284.1:p.Lys238=
XM_006718653.2:c.738G>A XP_006718716.1:p.Lys246=
NM_053056.3:c.714G>A MANE Select NP_444284.1:p.Lys238=
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