Canonical Allele Identifier: CA399631957

Gene: CNTNAP1 CCR10

Linked Data

• gnomAD v4: 17-42682876-G-T
• MyVariant Identifiers: chr17:g.40834894G>T (hg19) ; chr17:g.42682876G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42682876G>T , CM000679.2:g.42682876G>T	GRCh38
NC_000017.10:g.40834894G>T , CM000679.1:g.40834894G>T	GRCh37
NC_000017.9:g.38088420G>T	NCBI36
NG_042091.1:g.5263G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.47G>T (CNTNAP1) MANE Select	ENSP00000264638.3:p.Gly16Val
ENST00000264638.8:c.47G>T (CNTNAP1)	ENSP00000264638.3:p.Gly16Val
ENST00000591568.1:c.-643+940C>A (CCR10)	ENSP00000467331.1:n.-643+940C>A
ENST00000591662.1:c.47G>T (CNTNAP1)	ENSP00000466571.1:p.Gly16Val
ENST00000591765.1:c.-1198C>A (CCR10)	ENSP00000468135.1:n.-1198C>A
NM_003632.2:c.47G>T (CNTNAP1)	NP_003623.1:p.Gly16Val
XM_005257748.4:c.-974G>T (CNTNAP1)	XP_005257805.1:n.-974G>T
XM_017025238.1:c.47G>T (CNTNAP1)	XP_016880727.1:p.Gly16Val
XM_024451011.1:c.47G>T (CNTNAP1)	XP_024306779.1:p.Gly16Val
NM_003632.3:c.47G>T (CNTNAP1) MANE Select	NP_003623.1:p.Gly16Val