Canonical Allele Identifier: CA983839045
Gene: CNTNAP1 HGNC NCBI
CCR10 HGNC NCBI

Linked Data

dbSNP Id: rs2052950587
gnomAD v3: 17-42682710-G-A
gnomAD v4: 17-42682710-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42682710G>A , CM000679.2:g.42682710G>A GRCh38
NC_000017.10:g.40834728G>A , CM000679.1:g.40834728G>A GRCh37
NC_000017.9:g.38088254G>A NCBI36
NG_042091.1:g.5097G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.-120G>A (CNTNAP1) MANE Select ENSP00000264638.3:n.-120G>A
ENST00000264638.8:c.-120G>A (CNTNAP1) ENSP00000264638.3:n.-120G>A
ENST00000591568.1:c.-643+1106C>T (CCR10) ENSP00000467331.1:n.-643+1106C>T
ENST00000591662.1:c.-120G>A (CNTNAP1) ENSP00000466571.1:n.-120G>A
ENST00000591765.1:c.-1032C>T (CCR10) ENSP00000468135.1:n.-1032C>T
NM_003632.2:c.-120G>A (CNTNAP1) NP_003623.1:n.-120G>A
XM_005257748.4:c.-1140G>A (CNTNAP1) XP_005257805.1:n.-1140G>A
XM_017025238.1:c.-120G>A (CNTNAP1) XP_016880727.1:n.-120G>A
XM_024451011.1:c.-120G>A (CNTNAP1) XP_024306779.1:n.-120G>A
NM_003632.3:c.-120G>A (CNTNAP1) MANE Select NP_003623.1:n.-120G>A
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