Canonical Allele Identifier: CA8093089

Gene: CDH5

Linked Data

• dbSNP Id: rs769576705
• ExAC: 16:66432336 A / G
• gnomAD v2: 16-66432336-A-G
• gnomAD v4: 16-66398433-A-G
• MyVariant Identifiers: chr16:g.66432336A>G (hg19) ; chr16:g.66398433A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398433A>G , CM000678.2:g.66398433A>G	GRCh38
NC_000016.9:g.66432336A>G , CM000678.1:g.66432336A>G	GRCh37
NC_000016.8:g.64989837A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341529.8:c.1486-23A>G MANE Select	ENSP00000344115.3:n.1486-23A>G
ENST00000649567.1:c.1486-23A>G	ENSP00000497290.1:n.1486-23A>G
ENST00000341529.7:c.1486-23A>G	ENSP00000344115.3:n.1486-23A>G
ENST00000539168.1:c.-198-23A>G	ENSP00000461880.1:n.-198-23A>G
ENST00000565334.5:c.*609-23A>G	ENSP00000456028.1:n.*609-23A>G
ENST00000614547.4:c.1141-23A>G	ENSP00000479381.1:n.1141-23A>G
NM_001795.3:c.1486-23A>G	NP_001786.2:n.1486-23A>G
XM_011522801.1:c.1513-23A>G	XP_011521103.1:n.1513-23A>G
NM_001795.4:c.1486-23A>G	NP_001786.2:n.1486-23A>G
XM_011522801.2:c.1513-23A>G	XP_011521103.1:n.1513-23A>G
XM_024450133.1:c.1513-23A>G	XP_024305901.1:n.1513-23A>G
NM_001795.5:c.1486-23A>G MANE Select	NP_001786.2:n.1486-23A>G