Canonical Allele Identifier: CA399631924
Gene: CNTNAP1 HGNC NCBI
CCR10 HGNC NCBI

Linked Data

dbSNP Id: rs1265507214
gnomAD v4: 17-42682867-C-A
MyVariant Identifiers: chr17:g.40834885C>A (hg19) chr17:g.42682867C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42682867C>A , CM000679.2:g.42682867C>A GRCh38
NC_000017.10:g.40834885C>A , CM000679.1:g.40834885C>A GRCh37
NC_000017.9:g.38088411C>A NCBI36
NG_042091.1:g.5254C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.38C>A (CNTNAP1) MANE Select ENSP00000264638.3:p.Ala13Glu
ENST00000264638.8:c.38C>A (CNTNAP1) ENSP00000264638.3:p.Ala13Glu
ENST00000591568.1:c.-643+949G>T (CCR10) ENSP00000467331.1:n.-643+949G>T
ENST00000591662.1:c.38C>A (CNTNAP1) ENSP00000466571.1:p.Ala13Glu
ENST00000591765.1:c.-1189G>T (CCR10) ENSP00000468135.1:n.-1189G>T
NM_003632.2:c.38C>A (CNTNAP1) NP_003623.1:p.Ala13Glu
XM_005257748.4:c.-983C>A (CNTNAP1) XP_005257805.1:n.-983C>A
XM_017025238.1:c.38C>A (CNTNAP1) XP_016880727.1:p.Ala13Glu
XM_024451011.1:c.38C>A (CNTNAP1) XP_024306779.1:p.Ala13Glu
NM_003632.3:c.38C>A (CNTNAP1) MANE Select NP_003623.1:p.Ala13Glu
Search 100 bp 5'
Search 100 bp 3'