Canonical Allele Identifier: CA290792893

Gene: CNTNAP1

Linked Data

• dbSNP Id: rs969580866
• gnomAD v2: 17-40839475-T-G
• gnomAD v3: 17-42687457-T-G
• gnomAD v4: 17-42687457-T-G
• MyVariant Identifiers: chr17:g.40839475T>G (hg19) ; chr17:g.42687457T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687457T>G , CM000679.2:g.42687457T>G	GRCh38
NC_000017.10:g.40839475T>G , CM000679.1:g.40839475T>G	GRCh37
NC_000017.9:g.38093001T>G	NCBI36
NG_042091.1:g.9844T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1045-263T>G MANE Select	ENSP00000264638.3:n.1045-263T>G
ENST00000264638.8:c.1045-263T>G	ENSP00000264638.3:n.1045-263T>G
ENST00000586801.1:n.197T>G
ENST00000591662.1:c.1045-263T>G	ENSP00000466571.1:n.1045-263T>G
NM_003632.2:c.1045-263T>G	NP_003623.1:n.1045-263T>G
XM_005257748.3:c.817-263T>G	XP_005257805.1:n.817-263T>G
XM_005257748.4:c.817-263T>G	XP_005257805.1:n.817-263T>G
XM_017025238.1:c.1045-263T>G	XP_016880727.1:n.1045-263T>G
XM_024451011.1:c.1045-263T>G	XP_024306779.1:n.1045-263T>G
NM_003632.3:c.1045-263T>G MANE Select	NP_003623.1:n.1045-263T>G