Canonical Allele Identifier: CA394557640
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 807979
ClinVar RCV Id: RCV000996195
dbSNP Id: rs1596788162
gnomAD v4: 16-3729829-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729829G>T , CM000678.2:g.3729829G>T GRCh38
NC_000016.9:g.3779830G>T , CM000678.1:g.3779830G>T GRCh37
NC_000016.8:g.3719831G>T NCBI36
NG_009873.1:g.155292C>A
NG_009873.2:g.155885C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5218C>A MANE Select ENSP00000262367.5:p.His1740Asn
ENST00000262367.9:c.5218C>A ENSP00000262367.5:p.His1740Asn
ENST00000382070.7:c.5104C>A ENSP00000371502.3:p.His1702Asn
NM_001079846.1:c.5104C>A NP_001073315.1:p.His1702Asn
NM_004380.2:c.5218C>A NP_004371.2:p.His1740Asn
XM_005255124.3:c.5173C>A XP_005255181.1:p.His1725Asn
XM_005255125.3:c.4801C>A XP_005255182.1:p.His1601Asn
XM_006720848.2:c.4957C>A XP_006720911.1:p.His1653Asn
XM_011522380.1:c.5164C>A XP_011520682.1:p.His1722Asn
XM_011522381.1:c.4465C>A XP_011520683.1:p.His1489Asn
XM_005255124.4:c.5173C>A XP_005255181.1:p.His1725Asn
XM_005255125.4:c.4801C>A XP_005255182.1:p.His1601Asn
XM_006720848.3:c.4957C>A XP_006720911.1:p.His1653Asn
XM_011522381.2:c.4465C>A XP_011520683.1:p.His1489Asn
XM_017022944.1:c.5212C>A XP_016878433.1:p.His1738Asn
NM_004380.3:c.5218C>A MANE Select NP_004371.2:p.His1740Asn