Canonical Allele Identifier: CA14464521

Gene: CNTNAP1 CCR10

Linked Data

• ClinVar Variation Id: 1286631
• ClinVar RCV Id: RCV001710413
• dbSNP Id: rs12947031
• gnomAD v2: 17-40834631-G-C
• gnomAD v3: 17-42682613-G-C
• gnomAD v4: 17-42682613-G-C
• MyVariant Identifiers: chr17:g.40834631G>C (hg19) ; chr17:g.42682613G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42682613G>C , CM000679.2:g.42682613G>C	GRCh38
NC_000017.10:g.40834631G>C , CM000679.1:g.40834631G>C	GRCh37
NC_000017.9:g.38088157G>C	NCBI36
NG_042091.1:g.5000G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.-217G>C (CNTNAP1) MANE Select	ENSP00000264638.3:n.-217G>C
ENST00000264638.8:c.-217G>C (CNTNAP1)	ENSP00000264638.3:n.-217G>C
ENST00000591568.1:c.-643+1203C>G (CCR10)	ENSP00000467331.1:n.-643+1203C>G
ENST00000591765.1:c.-935C>G (CCR10)	ENSP00000468135.1:n.-935C>G
XM_017025238.1:c.-217G>C (CNTNAP1)	XP_016880727.1:n.-217G>C
XM_024451011.1:c.-217G>C (CNTNAP1)	XP_024306779.1:n.-217G>C
NM_003632.3:c.-217G>C (CNTNAP1) MANE Select	NP_003623.1:n.-217G>C