Canonical Allele Identifier: CA396194415

Gene: CDH5

Linked Data

• gnomAD v4: 16-66398546-C-T
• MyVariant Identifiers: chr16:g.66432449C>T (hg19) ; chr16:g.66398546C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398546C>T , CM000678.2:g.66398546C>T	GRCh38
NC_000016.9:g.66432449C>T , CM000678.1:g.66432449C>T	GRCh37
NC_000016.8:g.64989950C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341529.8:c.1576C>T MANE Select	ENSP00000344115.3:p.Leu526Phe
ENST00000649567.1:c.1576C>T	ENSP00000497290.1:p.Leu526Phe
ENST00000341529.7:c.1576C>T	ENSP00000344115.3:p.Leu526Phe
ENST00000539168.1:c.-108C>T	ENSP00000461880.1:n.-108C>T
ENST00000565334.5:c.*699C>T	ENSP00000456028.1:n.*699C>T
ENST00000614547.4:c.1231C>T	ENSP00000479381.1:p.Leu411Phe
NM_001795.3:c.1576C>T	NP_001786.2:p.Leu526Phe
XM_011522801.1:c.1603C>T	XP_011521103.1:p.Leu535Phe
NM_001795.4:c.1576C>T	NP_001786.2:p.Leu526Phe
XM_011522801.2:c.1603C>T	XP_011521103.1:p.Leu535Phe
XM_024450133.1:c.1603C>T	XP_024305901.1:p.Leu535Phe
NM_001795.5:c.1576C>T MANE Select	NP_001786.2:p.Leu526Phe