Canonical Allele Identifier: CA7868964

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 789543
• ClinVar RCV Id: RCV002547313
• dbSNP Id: rs377692518
• ExAC: 16:3778037 C / T
• gnomAD v2: 16-3778037-C-T
• gnomAD v3: 16-3728036-C-T
• gnomAD v4: 16-3728036-C-T
• MyVariant Identifiers: chr16:g.3778037C>T (hg19) ; chr16:g.3728036C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728036C>T , CM000678.2:g.3728036C>T	GRCh38
NC_000016.9:g.3778037C>T , CM000678.1:g.3778037C>T	GRCh37
NC_000016.8:g.3718038C>T	NCBI36
NG_009873.1:g.157085G>A
NG_009873.2:g.157678G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7011G>A MANE Select	ENSP00000262367.5:p.Thr2337=
ENST00000262367.9:c.7011G>A	ENSP00000262367.5:p.Thr2337=
ENST00000382070.7:c.6897G>A	ENSP00000371502.3:p.Thr2299=
NM_001079846.1:c.6897G>A	NP_001073315.1:p.Thr2299=
NM_004380.2:c.7011G>A	NP_004371.2:p.Thr2337=
XM_005255124.3:c.6966G>A	XP_005255181.1:p.Thr2322=
XM_005255125.3:c.6594G>A	XP_005255182.1:p.Thr2198=
XM_006720848.2:c.6750G>A	XP_006720911.1:p.Thr2250=
XM_011522380.1:c.6957G>A	XP_011520682.1:p.Thr2319=
XM_011522381.1:c.6258G>A	XP_011520683.1:p.Thr2086=
XM_005255124.4:c.6966G>A	XP_005255181.1:p.Thr2322=
XM_005255125.4:c.6594G>A	XP_005255182.1:p.Thr2198=
XM_006720848.3:c.6750G>A	XP_006720911.1:p.Thr2250=
XM_011522381.2:c.6258G>A	XP_011520683.1:p.Thr2086=
XM_017022944.1:c.7005G>A	XP_016878433.1:p.Thr2335=
NM_004380.3:c.7011G>A MANE Select	NP_004371.2:p.Thr2337=