Canonical Allele Identifier: CA1947210742

Gene: CDHR5

Linked Data

• dbSNP Id: rs1856921353
• gnomAD v4: 11-616783-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.616783T>G , CM000673.2:g.616783T>G	GRCh38
NC_000011.9:g.616783T>G , CM000673.1:g.616783T>G	GRCh37
NC_000011.8:g.606783T>G	NCBI36
NG_029106.1:g.4217A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000358353.8:c.*568A>C	ENSP00000351118.4:n.*568A>C
ENST00000397542.7:c.*568A>C MANE Select	ENSP00000380676.2:n.*568A>C
ENST00000358353.7:c.*568A>C	ENSP00000351118.3:n.*568A>C
ENST00000397542.6:c.*568A>C	ENSP00000380676.2:n.*568A>C
NM_001171968.1:c.*568A>C	NP_001165439.1:n.*568A>C
NM_021924.4:c.*568A>C	NP_068743.2:n.*568A>C
NM_031264.3:c.*568A>C	NP_112554.2:n.*568A>C
XM_006718253.2:c.*568A>C	XP_006718316.1:n.*568A>C
XM_011520188.1:c.*568A>C	XP_011518490.1:n.*568A>C
XM_011520189.1:c.*568A>C	XP_011518491.1:n.*568A>C
XM_011520190.1:c.*783A>C	XP_011518492.1:n.*783A>C
XM_006718253.3:c.*568A>C	XP_006718316.1:n.*568A>C
XM_011520188.2:c.*568A>C	XP_011518490.1:n.*568A>C
XM_011520189.2:c.*568A>C	XP_011518491.1:n.*568A>C
XM_011520190.2:c.*783A>C	XP_011518492.1:n.*783A>C
NM_001171968.2:c.*568A>C	NP_001165439.2:n.*568A>C
NM_021924.5:c.*568A>C MANE Select	NP_068743.3:n.*568A>C
NM_031264.4:c.*568A>C	NP_112554.3:n.*568A>C
NM_001171968.3:c.*568A>C	NP_001165439.2:n.*568A>C
NM_031264.5:c.*568A>C	NP_112554.3:n.*568A>C