Canonical Allele Identifier: CA290789004
Gene: CNTNAP1 HGNC NCBI
CCR10 HGNC NCBI

Linked Data

dbSNP Id: rs565692745
gnomAD v4: 17-42682606-A-G
MyVariant Identifiers: chr17:g.40834624A>G (hg19) chr17:g.42682606A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42682606A>G , CM000679.2:g.42682606A>G GRCh38
NC_000017.10:g.40834624A>G , CM000679.1:g.40834624A>G GRCh37
NC_000017.9:g.38088150A>G NCBI36
NG_042091.1:g.4993A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.-224A>G (CNTNAP1) MANE Select ENSP00000264638.3:n.-224A>G
ENST00000591568.1:c.-643+1210T>C (CCR10) ENSP00000467331.1:n.-643+1210T>C
ENST00000591765.1:c.-928T>C (CCR10) ENSP00000468135.1:n.-928T>C
XM_017025238.1:c.-224A>G (CNTNAP1) XP_016880727.1:n.-224A>G
XM_024451011.1:c.-224A>G (CNTNAP1) XP_024306779.1:n.-224A>G
NM_003632.3:c.-224A>G (CNTNAP1) MANE Select NP_003623.1:n.-224A>G
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