Canonical Allele Identifier: CA495916769

Gene: CDH5

Linked Data

• gnomAD v4: 16-66398524-G-A
• COSMIC: COSM6079552
• MyVariant Identifiers: chr16:g.66432427G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398524G>A , CM000678.2:g.66398524G>A	GRCh38
NC_000016.9:g.66432427G>A , CM000678.1:g.66432427G>A	GRCh37
NC_000016.8:g.64989928G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341529.8:c.1554G>A MANE Select	ENSP00000344115.3:p.Leu518=
ENST00000649567.1:c.1554G>A	ENSP00000497290.1:p.Leu518=
ENST00000341529.7:c.1554G>A	ENSP00000344115.3:p.Leu518=
ENST00000539168.1:c.-130G>A	ENSP00000461880.1:n.-130G>A
ENST00000565334.5:c.*677G>A	ENSP00000456028.1:n.*677G>A
ENST00000614547.4:c.1209G>A	ENSP00000479381.1:p.Leu403=
NM_001795.3:c.1554G>A	NP_001786.2:p.Leu518=
XM_011522801.1:c.1581G>A	XP_011521103.1:p.Leu527=
NM_001795.4:c.1554G>A	NP_001786.2:p.Leu518=
XM_011522801.2:c.1581G>A	XP_011521103.1:p.Leu527=
XM_024450133.1:c.1581G>A	XP_024305901.1:p.Leu527=
NM_001795.5:c.1554G>A MANE Select	NP_001786.2:p.Leu518=