Canonical Allele Identifier: CA500091403
Gene: CNTNAP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40839968G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42687950G>A , CM000679.2:g.42687950G>A GRCh38
NC_000017.10:g.40839968G>A , CM000679.1:g.40839968G>A GRCh37
NC_000017.9:g.38093494G>A NCBI36
NG_042091.1:g.10337G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.1275G>A MANE Select ENSP00000264638.3:p.Gln425=
ENST00000264638.8:c.1275G>A ENSP00000264638.3:p.Gln425=
ENST00000586801.1:n.690G>A
ENST00000591662.1:c.1275G>A ENSP00000466571.1:p.Gln425=
NM_003632.2:c.1275G>A NP_003623.1:p.Gln425=
XM_005257748.3:c.1047G>A XP_005257805.1:p.Gln349=
XM_005257748.4:c.1047G>A XP_005257805.1:p.Gln349=
XM_017025238.1:c.1275G>A XP_016880727.1:p.Gln425=
XM_024451011.1:c.1275G>A XP_024306779.1:p.Gln425=
NM_003632.3:c.1275G>A MANE Select NP_003623.1:p.Gln425=
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Search 100 bp 3'