Canonical Allele Identifier: CA388879895

Gene: CHD8

Linked Data

• gnomAD v4: 14-21393517-G-A
• MyVariant Identifiers: chr14:g.21861676G>A (hg19) ; chr14:g.21393517G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393517G>A , CM000676.2:g.21393517G>A	GRCh38
NC_000014.8:g.21861676G>A , CM000676.1:g.21861676G>A	GRCh37
NC_000014.7:g.20931516G>A	NCBI36
NG_021249.1:g.48782C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.5441C>T	ENSP00000406288.3:p.Ser1814Phe
ENST00000555935.2:c.3978C>T
ENST00000557364.6:c.6278C>T	ENSP00000451601.1:p.Ser2093Phe
ENST00000643469.1:c.6278C>T	ENSP00000495070.1:p.Ser2093Phe
ENST00000645206.1:n.5434C>T
ENST00000645929.1:c.5441C>T	ENSP00000494402.1:p.Ser1814Phe
ENST00000646647.2:c.6278C>T MANE Select	ENSP00000495240.1:p.Ser2093Phe
ENST00000399982.6:c.6278C>T	ENSP00000382863.2:p.Ser2093Phe
ENST00000430710.7:c.5441C>T	ENSP00000406288.3:p.Ser1814Phe
ENST00000557364.5:c.6278C>T	ENSP00000451601.1:p.Ser2093Phe
NM_001170629.1:c.6278C>T	NP_001164100.1:p.Ser2093Phe
NM_020920.3:c.5441C>T	NP_065971.2:p.Ser1814Phe
NM_001170629.2:c.6278C>T MANE Select	NP_001164100.1:p.Ser2093Phe
NM_020920.4:c.5441C>T	NP_065971.2:p.Ser1814Phe