Canonical Allele Identifier: CA8093105

Gene: CDH5

Linked Data

• dbSNP Id: rs3826229
• ExAC: 16:66432424 C / T
• gnomAD v2: 16-66432424-C-T
• gnomAD v3: 16-66398521-C-T
• gnomAD v4: 16-66398521-C-T
• MyVariant Identifiers: chr16:g.66432424C>T (hg19) ; chr16:g.66398521C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398521C>T , CM000678.2:g.66398521C>T	GRCh38
NC_000016.9:g.66432424C>T , CM000678.1:g.66432424C>T	GRCh37
NC_000016.8:g.64989925C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341529.8:c.1551C>T MANE Select	ENSP00000344115.3:p.Ile517=
ENST00000649567.1:c.1551C>T	ENSP00000497290.1:p.Ile517=
ENST00000341529.7:c.1551C>T	ENSP00000344115.3:p.Ile517=
ENST00000539168.1:c.-133C>T	ENSP00000461880.1:n.-133C>T
ENST00000565334.5:c.*674C>T	ENSP00000456028.1:n.*674C>T
ENST00000614547.4:c.1206C>T	ENSP00000479381.1:p.Ile402=
NM_001795.3:c.1551C>T	NP_001786.2:p.Ile517=
XM_011522801.1:c.1578C>T	XP_011521103.1:p.Ile526=
NM_001795.4:c.1551C>T	NP_001786.2:p.Ile517=
XM_011522801.2:c.1578C>T	XP_011521103.1:p.Ile526=
XM_024450133.1:c.1578C>T	XP_024305901.1:p.Ile526=
NM_001795.5:c.1551C>T MANE Select	NP_001786.2:p.Ile517=