Canonical Allele Identifier: CA399632006

Gene: CNTNAP1 CCR10

Linked Data

• dbSNP Id: rs1307728562
• gnomAD v2: 17-40834911-T-C
• gnomAD v3: 17-42682893-T-C
• gnomAD v4: 17-42682893-T-C
• MyVariant Identifiers: chr17:g.40834911T>C (hg19) ; chr17:g.42682893T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42682893T>C , CM000679.2:g.42682893T>C	GRCh38
NC_000017.10:g.40834911T>C , CM000679.1:g.40834911T>C	GRCh37
NC_000017.9:g.38088437T>C	NCBI36
NG_042091.1:g.5280T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.64T>C (CNTNAP1) MANE Select	ENSP00000264638.3:p.Tyr22His
ENST00000264638.8:c.64T>C (CNTNAP1)	ENSP00000264638.3:p.Tyr22His
ENST00000591568.1:c.-643+923A>G (CCR10)	ENSP00000467331.1:n.-643+923A>G
ENST00000591662.1:c.64T>C (CNTNAP1)	ENSP00000466571.1:p.Tyr22His
ENST00000591765.1:c.-1215A>G (CCR10)	ENSP00000468135.1:n.-1215A>G
NM_003632.2:c.64T>C (CNTNAP1)	NP_003623.1:p.Tyr22His
XM_005257748.4:c.-957T>C (CNTNAP1)	XP_005257805.1:n.-957T>C
XM_017025238.1:c.64T>C (CNTNAP1)	XP_016880727.1:p.Tyr22His
XM_024451011.1:c.64T>C (CNTNAP1)	XP_024306779.1:p.Tyr22His
NM_003632.3:c.64T>C (CNTNAP1) MANE Select	NP_003623.1:p.Tyr22His