Canonical Allele Identifier: CA290788977
Gene: CNTNAP1 HGNC NCBI
CCR10 HGNC NCBI

Linked Data

dbSNP Id: rs1048301655
gnomAD v3: 17-42682567-G-A
gnomAD v4: 17-42682567-G-A
MyVariant Identifiers: chr17:g.40834585G>A (hg19) chr17:g.42682567G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42682567G>A , CM000679.2:g.42682567G>A GRCh38
NC_000017.10:g.40834585G>A , CM000679.1:g.40834585G>A GRCh37
NC_000017.9:g.38088111G>A NCBI36
NG_042091.1:g.4954G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.-263G>A (CNTNAP1) MANE Select ENSP00000264638.3:n.-263G>A
ENST00000591568.1:c.-643+1249C>T (CCR10) ENSP00000467331.1:n.-643+1249C>T
ENST00000591765.1:c.-889C>T (CCR10) ENSP00000468135.1:n.-889C>T
XM_017025238.1:c.-263G>A (CNTNAP1) XP_016880727.1:n.-263G>A
XM_024451011.1:c.-263G>A (CNTNAP1) XP_024306779.1:n.-263G>A
NM_003632.3:c.-263G>A (CNTNAP1) MANE Select NP_003623.1:n.-263G>A
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