Canonical Allele Identifier: CA115783
Gene: CNNM4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2851
ClinVar RCV Id: RCV000002985
dbSNP Id: rs79424354
gnomAD v2: 2-97427335-C-A
gnomAD v4: 2-96761598-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96761598C>A , CM000664.2:g.96761598C>A GRCh38
NC_000002.11:g.97427335C>A , CM000664.1:g.97427335C>A GRCh37
NC_000002.10:g.96791062C>A NCBI36
NG_016608.1:g.5697C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377075.3:c.599C>A MANE Select ENSP00000366275.2:p.Ser200Tyr
ENST00000377075.2:c.599C>A ENSP00000366275.2:p.Ser200Tyr
NM_020184.3:c.599C>A NP_064569.3:p.Ser200Tyr
XM_005263914.2:c.599C>A XP_005263971.1:p.Ser200Tyr
XM_005263915.2:c.599C>A XP_005263972.1:p.Ser200Tyr
XM_011510955.1:c.599C>A XP_011509257.1:p.Ser200Tyr
XM_011510956.1:c.599C>A XP_011509258.1:p.Ser200Tyr
XM_005263914.4:c.599C>A XP_005263971.1:p.Ser200Tyr
XM_005263915.4:c.599C>A XP_005263972.1:p.Ser200Tyr
XM_011510955.3:c.599C>A XP_011509257.1:p.Ser200Tyr
XM_011510956.3:c.599C>A XP_011509258.1:p.Ser200Tyr
NM_020184.4:c.599C>A MANE Select NP_064569.3:p.Ser200Tyr