Canonical Allele Identifier: CA276982933

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1198067
• ClinVar RCV Id: RCV001562107
• dbSNP Id: rs114436262
• gnomAD v2: 16-3790225-T-C
• gnomAD v3: 16-3740224-T-C
• gnomAD v4: 16-3740224-T-C
• MyVariant Identifiers: chr16:g.3790225T>C (hg19) ; chr16:g.3740224T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740224T>C , CM000678.2:g.3740224T>C	GRCh38
NC_000016.9:g.3790225T>C , CM000678.1:g.3790225T>C	GRCh37
NC_000016.8:g.3730226T>C	NCBI36
NG_009873.1:g.144897A>G
NG_009873.2:g.145490A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4133+175A>G MANE Select	ENSP00000262367.5:n.4133+175A>G
ENST00000262367.9:c.4133+175A>G	ENSP00000262367.5:n.4133+175A>G
ENST00000382070.7:c.4019+175A>G	ENSP00000371502.3:n.4019+175A>G
ENST00000570939.2:c.2768+175A>G	ENSP00000461002.2:n.2768+175A>G
ENST00000573517.6:c.439+175A>G
ENST00000574740.1:n.215+175A>G
ENST00000576720.1:n.3070+175A>G
NM_001079846.1:c.4019+175A>G	NP_001073315.1:n.4019+175A>G
NM_004380.2:c.4133+175A>G	NP_004371.2:n.4133+175A>G
XM_005255124.3:c.4088+175A>G	XP_005255181.1:n.4088+175A>G
XM_005255125.3:c.3716+175A>G	XP_005255182.1:n.3716+175A>G
XM_006720848.2:c.4133+175A>G	XP_006720911.1:n.4133+175A>G
XM_011522380.1:c.4079+175A>G	XP_011520682.1:n.4079+175A>G
XM_011522381.1:c.3380+175A>G	XP_011520683.1:n.3380+175A>G
XM_005255124.4:c.4088+175A>G	XP_005255181.1:n.4088+175A>G
XM_005255125.4:c.3716+175A>G	XP_005255182.1:n.3716+175A>G
XM_006720848.3:c.4133+175A>G	XP_006720911.1:n.4133+175A>G
XM_011522381.2:c.3380+175A>G	XP_011520683.1:n.3380+175A>G
XM_017022944.1:c.4127+175A>G	XP_016878433.1:n.4127+175A>G
NM_004380.3:c.4133+175A>G MANE Select	NP_004371.2:n.4133+175A>G