Canonical Allele Identifier: CA495916748

Gene: CDH5

Linked Data

• gnomAD v4: 16-66398522-T-C
• MyVariant Identifiers: chr16:g.66432425T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398522T>C , CM000678.2:g.66398522T>C	GRCh38
NC_000016.9:g.66432425T>C , CM000678.1:g.66432425T>C	GRCh37
NC_000016.8:g.64989926T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341529.8:c.1552T>C MANE Select	ENSP00000344115.3:p.Leu518=
ENST00000649567.1:c.1552T>C	ENSP00000497290.1:p.Leu518=
ENST00000341529.7:c.1552T>C	ENSP00000344115.3:p.Leu518=
ENST00000539168.1:c.-132T>C	ENSP00000461880.1:n.-132T>C
ENST00000565334.5:c.*675T>C	ENSP00000456028.1:n.*675T>C
ENST00000614547.4:c.1207T>C	ENSP00000479381.1:p.Leu403=
NM_001795.3:c.1552T>C	NP_001786.2:p.Leu518=
XM_011522801.1:c.1579T>C	XP_011521103.1:p.Leu527=
NM_001795.4:c.1552T>C	NP_001786.2:p.Leu518=
XM_011522801.2:c.1579T>C	XP_011521103.1:p.Leu527=
XM_024450133.1:c.1579T>C	XP_024305901.1:p.Leu527=
NM_001795.5:c.1552T>C MANE Select	NP_001786.2:p.Leu518=