Canonical Allele Identifier: CA8581711

Gene: CNTNAP1

Linked Data

• dbSNP Id: rs371717693
• ExAC: 17:40839795 C / T
• gnomAD v2: 17-40839795-C-T
• gnomAD v3: 17-42687777-C-T
• gnomAD v4: 17-42687777-C-T
• MyVariant Identifiers: chr17:g.40839795C>T (hg19) ; chr17:g.42687777C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687777C>T , CM000679.2:g.42687777C>T	GRCh38
NC_000017.10:g.40839795C>T , CM000679.1:g.40839795C>T	GRCh37
NC_000017.9:g.38093321C>T	NCBI36
NG_042091.1:g.10164C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1102C>T MANE Select	ENSP00000264638.3:p.Pro368Ser
ENST00000264638.8:c.1102C>T	ENSP00000264638.3:p.Pro368Ser
ENST00000586801.1:n.517C>T
ENST00000591662.1:c.1102C>T	ENSP00000466571.1:p.Pro368Ser
NM_003632.2:c.1102C>T	NP_003623.1:p.Pro368Ser
XM_005257748.3:c.874C>T	XP_005257805.1:p.Pro292Ser
XM_005257748.4:c.874C>T	XP_005257805.1:p.Pro292Ser
XM_017025238.1:c.1102C>T	XP_016880727.1:p.Pro368Ser
XM_024451011.1:c.1102C>T	XP_024306779.1:p.Pro368Ser
NM_003632.3:c.1102C>T MANE Select	NP_003623.1:p.Pro368Ser