Canonical Allele Identifier: CA399638052

Gene: CNTNAP1

Linked Data

• gnomAD v4: 17-42687870-C-G
• COSMIC: COSM116140
• MyVariant Identifiers: chr17:g.40839888C>G (hg19) ; chr17:g.42687870C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687870C>G , CM000679.2:g.42687870C>G	GRCh38
NC_000017.10:g.40839888C>G , CM000679.1:g.40839888C>G	GRCh37
NC_000017.9:g.38093414C>G	NCBI36
NG_042091.1:g.10257C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1195C>G MANE Select	ENSP00000264638.3:p.Leu399Val
ENST00000264638.8:c.1195C>G	ENSP00000264638.3:p.Leu399Val
ENST00000586801.1:n.610C>G
ENST00000591662.1:c.1195C>G	ENSP00000466571.1:p.Leu399Val
NM_003632.2:c.1195C>G	NP_003623.1:p.Leu399Val
XM_005257748.3:c.967C>G	XP_005257805.1:p.Leu323Val
XM_005257748.4:c.967C>G	XP_005257805.1:p.Leu323Val
XM_017025238.1:c.1195C>G	XP_016880727.1:p.Leu399Val
XM_024451011.1:c.1195C>G	XP_024306779.1:p.Leu399Val
NM_003632.3:c.1195C>G MANE Select	NP_003623.1:p.Leu399Val