Canonical Allele Identifier: CA500091255

Gene: CNTNAP1

Linked Data

• gnomAD v4: 17-42687833-A-C
• MyVariant Identifiers: chr17:g.40839851A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687833A>C , CM000679.2:g.42687833A>C	GRCh38
NC_000017.10:g.40839851A>C , CM000679.1:g.40839851A>C	GRCh37
NC_000017.9:g.38093377A>C	NCBI36
NG_042091.1:g.10220A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1158A>C MANE Select	ENSP00000264638.3:p.Ser386=
ENST00000264638.8:c.1158A>C	ENSP00000264638.3:p.Ser386=
ENST00000586801.1:n.573A>C
ENST00000591662.1:c.1158A>C	ENSP00000466571.1:p.Ser386=
NM_003632.2:c.1158A>C	NP_003623.1:p.Ser386=
XM_005257748.3:c.930A>C	XP_005257805.1:p.Ser310=
XM_005257748.4:c.930A>C	XP_005257805.1:p.Ser310=
XM_017025238.1:c.1158A>C	XP_016880727.1:p.Ser386=
XM_024451011.1:c.1158A>C	XP_024306779.1:p.Ser386=
NM_003632.3:c.1158A>C MANE Select	NP_003623.1:p.Ser386=