Canonical Allele Identifier: CA14359188

Gene: CDH13

Linked Data

• dbSNP Id: rs74463323
• gnomAD v2: 16-83639265-C-T
• gnomAD v3: 16-83605660-C-T
• gnomAD v4: 16-83605660-C-T
• MyVariant Identifiers: chr16:g.83639265C>T (hg19) ; chr16:g.83605660C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.83605660C>T , CM000678.2:g.83605660C>T	GRCh38
NC_000016.9:g.83639265C>T , CM000678.1:g.83639265C>T	GRCh37
NC_000016.8:g.82196766C>T	NCBI36
NG_052819.1:g.983867C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567109.6:c.1101+3066C>T MANE Select	ENSP00000479395.1:n.1101+3066C>T
ENST00000268613.14:c.1242+3066C>T	ENSP00000268613.10:n.1242+3066C>T
ENST00000428848.7:c.984+3066C>T	ENSP00000394557.3:n.984+3066C>T
ENST00000539548.6:c.*733+3066C>T	ENSP00000442225.2:n.*733+3066C>T
ENST00000566620.5:c.1065+3066C>T	ENSP00000454435.3:n.1065+3066C>T
ENST00000567109.5:c.1101+3066C>T	ENSP00000479395.1:n.1101+3066C>T
ENST00000622885.4:c.945+3066C>T	ENSP00000483719.1:n.945+3066C>T
NM_001220488.1:c.1242+3066C>T	NP_001207417.1:n.1242+3066C>T
NM_001220489.1:c.984+3066C>T	NP_001207418.1:n.984+3066C>T
NM_001220490.1:c.339+3066C>T	NP_001207419.1:n.339+3066C>T
NM_001257.4:c.1101+3066C>T	NP_001248.1:n.1101+3066C>T
XM_011522804.1:c.798+3066C>T	XP_011521106.1:n.798+3066C>T
XM_011522805.1:c.1242+3066C>T	XP_011521107.1:n.1242+3066C>T
XM_011522804.3:c.798+3066C>T	XP_011521106.1:n.798+3066C>T
NM_001257.5:c.1101+3066C>T MANE Select	NP_001248.1:n.1101+3066C>T
NM_001220488.2:c.1242+3066C>T	NP_001207417.1:n.1242+3066C>T
NM_001220489.2:c.984+3066C>T	NP_001207418.1:n.984+3066C>T
NM_001220490.2:c.339+3066C>T	NP_001207419.1:n.339+3066C>T