Canonical Allele Identifier: CA290793075

Gene: CNTNAP1

Linked Data

• dbSNP Id: rs755070825
• gnomAD v4: 17-42687837-C-T
• MyVariant Identifiers: chr17:g.40839855C>T (hg19) ; chr17:g.42687837C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687837C>T , CM000679.2:g.42687837C>T	GRCh38
NC_000017.10:g.40839855C>T , CM000679.1:g.40839855C>T	GRCh37
NC_000017.9:g.38093381C>T	NCBI36
NG_042091.1:g.10224C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1162C>T MANE Select	ENSP00000264638.3:p.Arg388Cys
ENST00000264638.8:c.1162C>T	ENSP00000264638.3:p.Arg388Cys
ENST00000586801.1:n.577C>T
ENST00000591662.1:c.1162C>T	ENSP00000466571.1:p.Arg388Cys
NM_003632.2:c.1162C>T	NP_003623.1:p.Arg388Cys
XM_005257748.3:c.934C>T	XP_005257805.1:p.Arg312Cys
XM_005257748.4:c.934C>T	XP_005257805.1:p.Arg312Cys
XM_017025238.1:c.1162C>T	XP_016880727.1:p.Arg388Cys
XM_024451011.1:c.1162C>T	XP_024306779.1:p.Arg388Cys
NM_003632.3:c.1162C>T MANE Select	NP_003623.1:p.Arg388Cys