Canonical Allele Identifier: CA399631893

Gene: CNTNAP1 CCR10

Linked Data

• gnomAD v4: 17-42682856-C-G
• MyVariant Identifiers: chr17:g.40834874C>G (hg19) ; chr17:g.42682856C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42682856C>G , CM000679.2:g.42682856C>G	GRCh38
NC_000017.10:g.40834874C>G , CM000679.1:g.40834874C>G	GRCh37
NC_000017.9:g.38088400C>G	NCBI36
NG_042091.1:g.5243C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.27C>G (CNTNAP1) MANE Select	ENSP00000264638.3:p.Ile9Met
ENST00000264638.8:c.27C>G (CNTNAP1)	ENSP00000264638.3:p.Ile9Met
ENST00000591568.1:c.-643+960G>C (CCR10)	ENSP00000467331.1:n.-643+960G>C
ENST00000591662.1:c.27C>G (CNTNAP1)	ENSP00000466571.1:p.Ile9Met
ENST00000591765.1:c.-1178G>C (CCR10)	ENSP00000468135.1:n.-1178G>C
NM_003632.2:c.27C>G (CNTNAP1)	NP_003623.1:p.Ile9Met
XM_005257748.4:c.-994C>G (CNTNAP1)	XP_005257805.1:n.-994C>G
XM_017025238.1:c.27C>G (CNTNAP1)	XP_016880727.1:p.Ile9Met
XM_024451011.1:c.27C>G (CNTNAP1)	XP_024306779.1:p.Ile9Met
NM_003632.3:c.27C>G (CNTNAP1) MANE Select	NP_003623.1:p.Ile9Met