Canonical Allele Identifier: CA399637999

Gene: CNTNAP1

Linked Data

• dbSNP Id: rs1597806044
• gnomAD v4: 17-42687855-C-T
• MyVariant Identifiers: chr17:g.40839873C>T (hg19) ; chr17:g.42687855C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687855C>T , CM000679.2:g.42687855C>T	GRCh38
NC_000017.10:g.40839873C>T , CM000679.1:g.40839873C>T	GRCh37
NC_000017.9:g.38093399C>T	NCBI36
NG_042091.1:g.10242C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1180C>T MANE Select	ENSP00000264638.3:p.Leu394Phe
ENST00000264638.8:c.1180C>T	ENSP00000264638.3:p.Leu394Phe
ENST00000586801.1:n.595C>T
ENST00000591662.1:c.1180C>T	ENSP00000466571.1:p.Leu394Phe
NM_003632.2:c.1180C>T	NP_003623.1:p.Leu394Phe
XM_005257748.3:c.952C>T	XP_005257805.1:p.Leu318Phe
XM_005257748.4:c.952C>T	XP_005257805.1:p.Leu318Phe
XM_017025238.1:c.1180C>T	XP_016880727.1:p.Leu394Phe
XM_024451011.1:c.1180C>T	XP_024306779.1:p.Leu394Phe
NM_003632.3:c.1180C>T MANE Select	NP_003623.1:p.Leu394Phe