Canonical Allele Identifier: CA290793164
Gene: CNTNAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2523955
ClinVar RCV Id: RCV003289896
dbSNP Id: rs370338317
gnomAD v2: 17-40839993-G-A
gnomAD v3: 17-42687975-G-A
gnomAD v4: 17-42687975-G-A
MyVariant Identifiers: chr17:g.40839993G>A (hg19) chr17:g.42687975G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42687975G>A , CM000679.2:g.42687975G>A GRCh38
NC_000017.10:g.40839993G>A , CM000679.1:g.40839993G>A GRCh37
NC_000017.9:g.38093519G>A NCBI36
NG_042091.1:g.10362G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.1300G>A MANE Select ENSP00000264638.3:p.Ala434Thr
ENST00000264638.8:c.1300G>A ENSP00000264638.3:p.Ala434Thr
ENST00000586801.1:n.715G>A
ENST00000591662.1:c.1300G>A ENSP00000466571.1:p.Ala434Thr
NM_003632.2:c.1300G>A NP_003623.1:p.Ala434Thr
XM_005257748.3:c.1072G>A XP_005257805.1:p.Ala358Thr
XM_005257748.4:c.1072G>A XP_005257805.1:p.Ala358Thr
XM_017025238.1:c.1300G>A XP_016880727.1:p.Ala434Thr
XM_024451011.1:c.1300G>A XP_024306779.1:p.Ala434Thr
NM_003632.3:c.1300G>A MANE Select NP_003623.1:p.Ala434Thr
Search 100 bp 5'
Search 100 bp 3'