Canonical Allele Identifier: CA396194156

Gene: CDH5

Linked Data

• dbSNP Id: rs1961227755
• gnomAD v3: 16-66398484-A-C
• gnomAD v4: 16-66398484-A-C
• MyVariant Identifiers: chr16:g.66432387A>C (hg19) ; chr16:g.66398484A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398484A>C , CM000678.2:g.66398484A>C	GRCh38
NC_000016.9:g.66432387A>C , CM000678.1:g.66432387A>C	GRCh37
NC_000016.8:g.64989888A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341529.8:c.1514A>C MANE Select	ENSP00000344115.3:p.Lys505Thr
ENST00000649567.1:c.1514A>C	ENSP00000497290.1:p.Lys505Thr
ENST00000341529.7:c.1514A>C	ENSP00000344115.3:p.Lys505Thr
ENST00000539168.1:c.-170A>C	ENSP00000461880.1:n.-170A>C
ENST00000565334.5:c.*637A>C	ENSP00000456028.1:n.*637A>C
ENST00000614547.4:c.1169A>C	ENSP00000479381.1:p.Lys390Thr
NM_001795.3:c.1514A>C	NP_001786.2:p.Lys505Thr
XM_011522801.1:c.1541A>C	XP_011521103.1:p.Lys514Thr
NM_001795.4:c.1514A>C	NP_001786.2:p.Lys505Thr
XM_011522801.2:c.1541A>C	XP_011521103.1:p.Lys514Thr
XM_024450133.1:c.1541A>C	XP_024305901.1:p.Lys514Thr
NM_001795.5:c.1514A>C MANE Select	NP_001786.2:p.Lys505Thr