Canonical Allele Identifier: CA369924639

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 536328
• ClinVar RCV Id: RCV000644726
• dbSNP Id: rs1554441866
• gnomAD v4: 7-147132336-A-T
• MyVariant Identifiers: chr7:g.146829428A>T (hg19) ; chr7:g.147132336A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132336A>T , CM000669.2:g.147132336A>T	GRCh38
NC_000007.13:g.146829428A>T , CM000669.1:g.146829428A>T	GRCh37
NC_000007.12:g.146460361A>T	NCBI36
NG_007092.2:g.1020976A>T
NG_007092.3:g.1021336A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1175A>T MANE Select	ENSP00000354778.3:p.Gln392Leu
ENST00000636561.1:n.1078A>T
ENST00000636870.1:n.1037A>T
ENST00000637150.1:n.1104A>T
ENST00000637694.1:n.1078A>T
ENST00000637825.1:n.658A>T
ENST00000638117.1:n.1078A>T
ENST00000361727.7:c.1175A>T	ENSP00000354778.3:p.Gln392Leu
NM_014141.5:c.1175A>T	NP_054860.1:p.Gln392Leu
XM_017011950.2:c.1175A>T	XP_016867439.1:p.Gln392Leu
NM_014141.6:c.1175A>T MANE Select	NP_054860.1:p.Gln392Leu