Canonical Allele Identifier: CA14735358

Gene: CCNE1

Linked Data

• dbSNP Id: rs1406
• gnomAD v2: 19-30315112-C-A
• gnomAD v3: 19-29824205-C-A
• gnomAD v4: 19-29824205-C-A
• MyVariant Identifiers: chr19:g.30315112C>A (hg19) ; chr19:g.29824205C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.29824205C>A , CM000681.2:g.29824205C>A	GRCh38
NC_000019.9:g.30315112C>A , CM000681.1:g.30315112C>A	GRCh37
NC_000019.8:g.35006952C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262643.8:c.*428C>A MANE Select	ENSP00000262643.3:n.*428C>A
ENST00000262643.7:c.*428C>A	ENSP00000262643.3:n.*428C>A
ENST00000357943.9:c.*428C>A	ENSP00000350625.6:n.*428C>A
ENST00000444983.6:c.*428C>A	ENSP00000410179.2:n.*428C>A
ENST00000574121.1:n.1220C>A
NM_001238.2:c.*428C>A	NP_001229.1:n.*428C>A
XM_005259370.2:c.*428C>A	XP_005259427.1:n.*428C>A
XM_006723457.2:c.*428C>A	XP_006723520.1:n.*428C>A
XM_011527440.1:c.*428C>A	XP_011525742.1:n.*428C>A
NM_001238.3:c.*428C>A	NP_001229.1:n.*428C>A
NM_001322259.1:c.*428C>A	NP_001309188.1:n.*428C>A
NM_001322261.1:c.*428C>A	NP_001309190.1:n.*428C>A
NM_001322262.1:c.*428C>A	NP_001309191.1:n.*428C>A
XM_011527440.2:c.*428C>A	XP_011525742.1:n.*428C>A
NM_001238.4:c.*428C>A MANE Select	NP_001229.1:n.*428C>A
NM_001322259.2:c.*428C>A	NP_001309188.1:n.*428C>A
NM_001322261.2:c.*428C>A	NP_001309190.1:n.*428C>A
NM_001322262.2:c.*428C>A	NP_001309191.1:n.*428C>A