Canonical Allele Identifier: CA290792981
Gene: CNTNAP1 HGNC NCBI

Linked Data

dbSNP Id: rs890985551
MyVariant Identifiers: chr17:g.40839690G>A (hg19) chr17:g.42687672G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42687672G>A , CM000679.2:g.42687672G>A GRCh38
NC_000017.10:g.40839690G>A , CM000679.1:g.40839690G>A GRCh37
NC_000017.9:g.38093216G>A NCBI36
NG_042091.1:g.10059G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.1045-48G>A MANE Select ENSP00000264638.3:n.1045-48G>A
ENST00000264638.8:c.1045-48G>A ENSP00000264638.3:n.1045-48G>A
ENST00000586801.1:n.412G>A
ENST00000591662.1:c.1045-48G>A ENSP00000466571.1:n.1045-48G>A
NM_003632.2:c.1045-48G>A NP_003623.1:n.1045-48G>A
XM_005257748.3:c.817-48G>A XP_005257805.1:n.817-48G>A
XM_005257748.4:c.817-48G>A XP_005257805.1:n.817-48G>A
XM_017025238.1:c.1045-48G>A XP_016880727.1:n.1045-48G>A
XM_024451011.1:c.1045-48G>A XP_024306779.1:n.1045-48G>A
NM_003632.3:c.1045-48G>A MANE Select NP_003623.1:n.1045-48G>A
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