Canonical Allele Identifier: CA216915534

Gene: CDHR5

Linked Data

• dbSNP Id: rs771204719
• gnomAD v2: 11-616775-C-T
• gnomAD v3: 11-616775-C-T
• gnomAD v4: 11-616775-C-T
• MyVariant Identifiers: chr11:g.616775C>T (hg19) ; chr11:g.616775C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.616775C>T , CM000673.2:g.616775C>T	GRCh38
NC_000011.9:g.616775C>T , CM000673.1:g.616775C>T	GRCh37
NC_000011.8:g.606775C>T	NCBI36
NG_029106.1:g.4225G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000358353.8:c.*576G>A	ENSP00000351118.4:n.*576G>A
ENST00000397542.7:c.*576G>A MANE Select	ENSP00000380676.2:n.*576G>A
ENST00000358353.7:c.*576G>A	ENSP00000351118.3:n.*576G>A
ENST00000397542.6:c.*576G>A	ENSP00000380676.2:n.*576G>A
NM_001171968.1:c.*576G>A	NP_001165439.1:n.*576G>A
NM_021924.4:c.*576G>A	NP_068743.2:n.*576G>A
NM_031264.3:c.*576G>A	NP_112554.2:n.*576G>A
XM_006718253.2:c.*576G>A	XP_006718316.1:n.*576G>A
XM_011520188.1:c.*576G>A	XP_011518490.1:n.*576G>A
XM_011520189.1:c.*576G>A	XP_011518491.1:n.*576G>A
XM_011520190.1:c.*791G>A	XP_011518492.1:n.*791G>A
XM_006718253.3:c.*576G>A	XP_006718316.1:n.*576G>A
XM_011520188.2:c.*576G>A	XP_011518490.1:n.*576G>A
XM_011520189.2:c.*576G>A	XP_011518491.1:n.*576G>A
XM_011520190.2:c.*791G>A	XP_011518492.1:n.*791G>A
NM_001171968.2:c.*576G>A	NP_001165439.2:n.*576G>A
NM_021924.5:c.*576G>A MANE Select	NP_068743.3:n.*576G>A
NM_031264.4:c.*576G>A	NP_112554.3:n.*576G>A
NM_001171968.3:c.*576G>A	NP_001165439.2:n.*576G>A
NM_031264.5:c.*576G>A	NP_112554.3:n.*576G>A