Canonical Allele Identifier: CA8093107

Gene: CDH5

Linked Data

• dbSNP Id: rs781437087
• ExAC: 16:66432454 G / A
• gnomAD v2: 16-66432454-G-A
• gnomAD v3: 16-66398551-G-A
• gnomAD v4: 16-66398551-G-A
• MyVariant Identifiers: chr16:g.66432454G>A (hg19) ; chr16:g.66398551G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398551G>A , CM000678.2:g.66398551G>A	GRCh38
NC_000016.9:g.66432454G>A , CM000678.1:g.66432454G>A	GRCh37
NC_000016.8:g.64989955G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341529.8:c.1581G>A MANE Select	ENSP00000344115.3:p.Thr527=
ENST00000649567.1:c.1581G>A	ENSP00000497290.1:p.Thr527=
ENST00000341529.7:c.1581G>A	ENSP00000344115.3:p.Thr527=
ENST00000539168.1:c.-103G>A	ENSP00000461880.1:n.-103G>A
ENST00000565334.5:c.*704G>A	ENSP00000456028.1:n.*704G>A
ENST00000614547.4:c.1236G>A	ENSP00000479381.1:p.Thr412=
NM_001795.3:c.1581G>A	NP_001786.2:p.Thr527=
XM_011522801.1:c.1608G>A	XP_011521103.1:p.Thr536=
NM_001795.4:c.1581G>A	NP_001786.2:p.Thr527=
XM_011522801.2:c.1608G>A	XP_011521103.1:p.Thr536=
XM_024450133.1:c.1608G>A	XP_024305901.1:p.Thr536=
NM_001795.5:c.1581G>A MANE Select	NP_001786.2:p.Thr527=