Canonical Allele Identifier: CA2637974051
Gene: CNTNAP1 HGNC NCBI

Linked Data

gnomAD v4: 17-42687324-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42687324G>C , CM000679.2:g.42687324G>C GRCh38
NC_000017.10:g.40839342G>C , CM000679.1:g.40839342G>C GRCh37
NC_000017.9:g.38092868G>C NCBI36
NG_042091.1:g.9711G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.1044+278G>C MANE Select ENSP00000264638.3:n.1044+278G>C
ENST00000264638.8:c.1044+278G>C ENSP00000264638.3:n.1044+278G>C
ENST00000586801.1:n.64G>C
ENST00000591662.1:c.1044+278G>C ENSP00000466571.1:n.1044+278G>C
NM_003632.2:c.1044+278G>C NP_003623.1:n.1044+278G>C
XM_005257748.3:c.816+278G>C XP_005257805.1:n.816+278G>C
XM_005257748.4:c.816+278G>C XP_005257805.1:n.816+278G>C
XM_017025238.1:c.1044+278G>C XP_016880727.1:n.1044+278G>C
XM_024451011.1:c.1044+278G>C XP_024306779.1:n.1044+278G>C
NM_003632.3:c.1044+278G>C MANE Select NP_003623.1:n.1044+278G>C
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