Canonical Allele Identifier: CA8991538
Community Standard Title: NM_004361.5(CDH7):c.1904A>G (p.Lys635Arg)
Gene: CDH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.65880440A>G , CM000680.2:g.65880440A>G GRCh38
NC_000018.9:g.63547676A>G , CM000680.1:g.63547676A>G GRCh37
NC_000018.8:g.61698656A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004361.5:c.1904A>G MANE Select NP_004352.2:p.Lys635Arg
ENST00000397968.4:c.1904A>G MANE Select ENSP00000381058.2:p.Lys635Arg
NM_001362438.1:c.1904A>G NP_001349367.1:p.Lys635Arg
NM_001362438.2:c.1904A>G NP_001349367.1:p.Lys635Arg
NM_004361.2:c.1904A>G NP_004352.2:p.Lys635Arg
NM_004361.4:c.1904A>G NP_004352.2:p.Lys635Arg
NM_033646.1:c.1904A>G NP_387450.1:p.Lys635Arg
NM_033646.3:c.1904A>G NP_387450.1:p.Lys635Arg
NM_033646.4:c.1904A>G NP_387450.1:p.Lys635Arg
ENST00000323011.7:c.1904A>G ENSP00000319166.3:p.Lys635Arg
ENST00000397968.3:c.1904A>G ENSP00000381058.2:p.Lys635Arg