Canonical Allele Identifier: CA228113814

Gene: CNTN5

Linked Data

• dbSNP Id: rs536228067
• gnomAD v2: 11-100173466-G-C
• gnomAD v3: 11-100302734-G-C
• gnomAD v4: 11-100302734-G-C
• MyVariant Identifiers: chr11:g.100173466G>C (hg19) ; chr11:g.100302734G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.100302734G>C , CM000673.2:g.100302734G>C	GRCh38
NC_000011.9:g.100173466G>C , CM000673.1:g.100173466G>C	GRCh37
NC_000011.8:g.99678676G>C	NCBI36
NG_047156.1:g.1286759G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524871.6:c.2620+3338G>C MANE Select	ENSP00000435637.1:n.2620+3338G>C
ENST00000279463.7:c.2572+3338G>C	ENSP00000279463.4:n.2572+3338G>C
ENST00000418526.6:c.2398+3338G>C	ENSP00000393229.2:n.2398+3338G>C
ENST00000524560.1:n.868+3338G>C
ENST00000524871.5:c.2620+3338G>C	ENSP00000435637.1:n.2620+3338G>C
ENST00000527185.5:c.2620+3338G>C	ENSP00000433575.1:n.2620+3338G>C
ENST00000528682.5:c.2620+3338G>C	ENSP00000436185.1:n.2620+3338G>C
ENST00000619298.1:c.2386+3338G>C	ENSP00000478120.1:n.2386+3338G>C
NM_001243270.1:c.2620+3338G>C	NP_001230199.1:n.2620+3338G>C
NM_001243271.1:c.2620+3338G>C	NP_001230200.1:n.2620+3338G>C
NM_014361.3:c.2620+3338G>C	NP_055176.1:n.2620+3338G>C
NM_175566.2:c.2398+3338G>C	NP_780775.1:n.2398+3338G>C
XM_011542871.1:c.2398+3338G>C	XP_011541173.1:n.2398+3338G>C
XM_017017926.1:c.2620+3338G>C	XP_016873415.1:n.2620+3338G>C
XR_001747909.1:n.3003+3338G>C
NM_014361.4:c.2620+3338G>C MANE Select	NP_055176.1:n.2620+3338G>C
NM_001243270.2:c.2620+3338G>C	NP_001230199.1:n.2620+3338G>C
NM_001243271.2:c.2620+3338G>C	NP_001230200.1:n.2620+3338G>C