Canonical Allele Identifier: CA8581735
Gene: CNTNAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 777179
ClinVar RCV Id: RCV000957609
dbSNP Id: rs34596553
ExAC: 17:40839944 G / A
gnomAD v2: 17-40839944-G-A
gnomAD v3: 17-42687926-G-A
gnomAD v4: 17-42687926-G-A
MyVariant Identifiers: chr17:g.40839944G>A (hg19) chr17:g.42687926G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42687926G>A , CM000679.2:g.42687926G>A GRCh38
NC_000017.10:g.40839944G>A , CM000679.1:g.40839944G>A GRCh37
NC_000017.9:g.38093470G>A NCBI36
NG_042091.1:g.10313G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.1251G>A MANE Select ENSP00000264638.3:p.Gly417=
ENST00000264638.8:c.1251G>A ENSP00000264638.3:p.Gly417=
ENST00000586801.1:n.666G>A
ENST00000591662.1:c.1251G>A ENSP00000466571.1:p.Gly417=
NM_003632.2:c.1251G>A NP_003623.1:p.Gly417=
XM_005257748.3:c.1023G>A XP_005257805.1:p.Gly341=
XM_005257748.4:c.1023G>A XP_005257805.1:p.Gly341=
XM_017025238.1:c.1251G>A XP_016880727.1:p.Gly417=
XM_024451011.1:c.1251G>A XP_024306779.1:p.Gly417=
NM_003632.3:c.1251G>A MANE Select NP_003623.1:p.Gly417=
Search 100 bp 5'
Search 100 bp 3'