Canonical Allele Identifier: CA2576278107

Gene: CNTNAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687642G>C , CM000679.2:g.42687642G>C	GRCh38
NC_000017.10:g.40839660G>C , CM000679.1:g.40839660G>C	GRCh37
NC_000017.9:g.38093186G>C	NCBI36
NG_042091.1:g.10029G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1045-78G>C MANE Select	ENSP00000264638.3:n.1045-78G>C
ENST00000264638.8:c.1045-78G>C	ENSP00000264638.3:n.1045-78G>C
ENST00000586801.1:n.382G>C
ENST00000591662.1:c.1045-78G>C	ENSP00000466571.1:n.1045-78G>C
NM_003632.2:c.1045-78G>C	NP_003623.1:n.1045-78G>C
XM_005257748.3:c.817-78G>C	XP_005257805.1:n.817-78G>C
XM_005257748.4:c.817-78G>C	XP_005257805.1:n.817-78G>C
XM_017025238.1:c.1045-78G>C	XP_016880727.1:n.1045-78G>C
XM_024451011.1:c.1045-78G>C	XP_024306779.1:n.1045-78G>C
NM_003632.3:c.1045-78G>C MANE Select	NP_003623.1:n.1045-78G>C