Canonical Allele Identifier: CA2633642276

Gene: CDH5

Linked Data

• gnomAD v4: 16-66398567-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398567C>T , CM000678.2:g.66398567C>T	GRCh38
NC_000016.9:g.66432470C>T , CM000678.1:g.66432470C>T	GRCh37
NC_000016.8:g.64989971C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341529.8:c.1591+6C>T MANE Select	ENSP00000344115.3:n.1591+6C>T
ENST00000649567.1:c.1591+6C>T	ENSP00000497290.1:n.1591+6C>T
ENST00000341529.7:c.1591+6C>T	ENSP00000344115.3:n.1591+6C>T
ENST00000539168.1:c.-93+6C>T	ENSP00000461880.1:n.-93+6C>T
ENST00000565334.5:c.*714+6C>T	ENSP00000456028.1:n.*714+6C>T
ENST00000614547.4:c.1246+6C>T	ENSP00000479381.1:n.1246+6C>T
NM_001795.3:c.1591+6C>T	NP_001786.2:n.1591+6C>T
XM_011522801.1:c.1618+6C>T	XP_011521103.1:n.1618+6C>T
NM_001795.4:c.1591+6C>T	NP_001786.2:n.1591+6C>T
XM_011522801.2:c.1618+6C>T	XP_011521103.1:n.1618+6C>T
XM_024450133.1:c.1618+6C>T	XP_024305901.1:n.1618+6C>T
NM_001795.5:c.1591+6C>T MANE Select	NP_001786.2:n.1591+6C>T