Canonical Allele Identifier: CA399637938

Gene: CNTNAP1

Linked Data

• MyVariant Identifiers: chr17:g.40839860C>A (hg19) ; chr17:g.42687842C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687842C>A , CM000679.2:g.42687842C>A	GRCh38
NC_000017.10:g.40839860C>A , CM000679.1:g.40839860C>A	GRCh37
NC_000017.9:g.38093386C>A	NCBI36
NG_042091.1:g.10229C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1167C>A MANE Select	ENSP00000264638.3:p.Phe389Leu
ENST00000264638.8:c.1167C>A	ENSP00000264638.3:p.Phe389Leu
ENST00000586801.1:n.582C>A
ENST00000591662.1:c.1167C>A	ENSP00000466571.1:p.Phe389Leu
NM_003632.2:c.1167C>A	NP_003623.1:p.Phe389Leu
XM_005257748.3:c.939C>A	XP_005257805.1:p.Phe313Leu
XM_005257748.4:c.939C>A	XP_005257805.1:p.Phe313Leu
XM_017025238.1:c.1167C>A	XP_016880727.1:p.Phe389Leu
XM_024451011.1:c.1167C>A	XP_024306779.1:p.Phe389Leu
NM_003632.3:c.1167C>A MANE Select	NP_003623.1:p.Phe389Leu