Canonical Allele Identifier: CA396194316

Gene: CDH5

Linked Data

• ClinVar Variation Id: 2520873
• ClinVar RCV Id: RCV003255376
• dbSNP Id: rs1961228544
• gnomAD v4: 16-66398526-A-G
• MyVariant Identifiers: chr16:g.66432429A>G (hg19) ; chr16:g.66398526A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398526A>G , CM000678.2:g.66398526A>G	GRCh38
NC_000016.9:g.66432429A>G , CM000678.1:g.66432429A>G	GRCh37
NC_000016.8:g.64989930A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341529.8:c.1556A>G MANE Select	ENSP00000344115.3:p.Asn519Ser
ENST00000649567.1:c.1556A>G	ENSP00000497290.1:p.Asn519Ser
ENST00000341529.7:c.1556A>G	ENSP00000344115.3:p.Asn519Ser
ENST00000539168.1:c.-128A>G	ENSP00000461880.1:n.-128A>G
ENST00000565334.5:c.*679A>G	ENSP00000456028.1:n.*679A>G
ENST00000614547.4:c.1211A>G	ENSP00000479381.1:p.Asn404Ser
NM_001795.3:c.1556A>G	NP_001786.2:p.Asn519Ser
XM_011522801.1:c.1583A>G	XP_011521103.1:p.Asn528Ser
NM_001795.4:c.1556A>G	NP_001786.2:p.Asn519Ser
XM_011522801.2:c.1583A>G	XP_011521103.1:p.Asn528Ser
XM_024450133.1:c.1583A>G	XP_024305901.1:p.Asn528Ser
NM_001795.5:c.1556A>G MANE Select	NP_001786.2:p.Asn519Ser