Canonical Allele Identifier: CA2260598657

Gene: CNTNAP1

Linked Data

• dbSNP Id: rs2053040743

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42688064T>G , CM000679.2:g.42688064T>G	GRCh38
NC_000017.10:g.40840082T>G , CM000679.1:g.40840082T>G	GRCh37
NC_000017.9:g.38093608T>G	NCBI36
NG_042091.1:g.10451T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1306+83T>G MANE Select	ENSP00000264638.3:n.1306+83T>G
ENST00000264638.8:c.1306+83T>G	ENSP00000264638.3:n.1306+83T>G
ENST00000586801.1:n.721+83T>G
ENST00000591662.1:c.1306+83T>G	ENSP00000466571.1:n.1306+83T>G
NM_003632.2:c.1306+83T>G	NP_003623.1:n.1306+83T>G
XM_005257748.3:c.1078+83T>G	XP_005257805.1:n.1078+83T>G
XM_005257748.4:c.1078+83T>G	XP_005257805.1:n.1078+83T>G
XM_017025238.1:c.1306+83T>G	XP_016880727.1:n.1306+83T>G
XM_024451011.1:c.1306+83T>G	XP_024306779.1:n.1306+83T>G
NM_003632.3:c.1306+83T>G MANE Select	NP_003623.1:n.1306+83T>G