Canonical Allele Identifier: CA7868937

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2662465
• ClinVar RCV Id: RCV003443960
• dbSNP Id: rs369215519
• ExAC: 16:3777853 G / T
• gnomAD v2: 16-3777853-G-T
• gnomAD v4: 16-3727852-G-T
• MyVariant Identifiers: chr16:g.3777853G>T (hg19) ; chr16:g.3727852G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727852G>T , CM000678.2:g.3727852G>T	GRCh38
NC_000016.9:g.3777853G>T , CM000678.1:g.3777853G>T	GRCh37
NC_000016.8:g.3717854G>T	NCBI36
NG_009873.1:g.157269C>A
NG_009873.2:g.157862C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7195C>A MANE Select	ENSP00000262367.5:p.His2399Asn
ENST00000262367.9:c.7195C>A	ENSP00000262367.5:p.His2399Asn
ENST00000382070.7:c.7081C>A	ENSP00000371502.3:p.His2361Asn
NM_001079846.1:c.7081C>A	NP_001073315.1:p.His2361Asn
NM_004380.2:c.7195C>A	NP_004371.2:p.His2399Asn
XM_005255124.3:c.7150C>A	XP_005255181.1:p.His2384Asn
XM_005255125.3:c.6778C>A	XP_005255182.1:p.His2260Asn
XM_006720848.2:c.6934C>A	XP_006720911.1:p.His2312Asn
XM_011522380.1:c.7141C>A	XP_011520682.1:p.His2381Asn
XM_011522381.1:c.6442C>A	XP_011520683.1:p.His2148Asn
XM_005255124.4:c.7150C>A	XP_005255181.1:p.His2384Asn
XM_005255125.4:c.6778C>A	XP_005255182.1:p.His2260Asn
XM_006720848.3:c.6934C>A	XP_006720911.1:p.His2312Asn
XM_011522381.2:c.6442C>A	XP_011520683.1:p.His2148Asn
XM_017022944.1:c.7189C>A	XP_016878433.1:p.His2397Asn
NM_004380.3:c.7195C>A MANE Select	NP_004371.2:p.His2399Asn