Canonical Allele Identifier: CA290788970

Gene: CNTNAP1 CCR10

Linked Data

• dbSNP Id: rs552141471
• gnomAD v2: 17-40834565-A-G
• gnomAD v3: 17-42682547-A-G
• gnomAD v4: 17-42682547-A-G
• MyVariant Identifiers: chr17:g.40834565A>G (hg19) ; chr17:g.42682547A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42682547A>G , CM000679.2:g.42682547A>G	GRCh38
NC_000017.10:g.40834565A>G , CM000679.1:g.40834565A>G	GRCh37
NC_000017.9:g.38088091A>G	NCBI36
NG_042091.1:g.4934A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.-283A>G (CNTNAP1) MANE Select	ENSP00000264638.3:n.-283A>G
ENST00000591568.1:c.-643+1269T>C (CCR10)	ENSP00000467331.1:n.-643+1269T>C
ENST00000591765.1:c.-869T>C (CCR10)	ENSP00000468135.1:n.-869T>C
XM_017025238.1:c.-283A>G (CNTNAP1)	XP_016880727.1:n.-283A>G
XM_024451011.1:c.-283A>G (CNTNAP1)	XP_024306779.1:n.-283A>G
NM_003632.3:c.-283A>G (CNTNAP1) MANE Select	NP_003623.1:n.-283A>G