Canonical Allele Identifier: CA1783625
Gene: CNNM4 HGNC NCBI

Linked Data

ClinVar Variation Id: 337594
ClinVar RCV Id: RCV002523149
dbSNP Id: rs200775112
ExAC: 2:97475181 T / G
gnomAD v2: 2-97475181-T-G
gnomAD v3: 2-96809444-T-G
gnomAD v4: 2-96809444-T-G
MyVariant Identifiers: chr2:g.97475181T>G (hg19) chr2:g.96809444T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96809444T>G , CM000664.2:g.96809444T>G GRCh38
NC_000002.11:g.97475181T>G , CM000664.1:g.97475181T>G GRCh37
NC_000002.10:g.96838908T>G NCBI36
NG_016608.1:g.53543T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000377075.3:c.2255T>G MANE Select ENSP00000366275.2:p.Val752Gly
ENST00000377075.2:c.2255T>G ENSP00000366275.2:p.Val752Gly
NM_020184.3:c.2255T>G NP_064569.3:p.Val752Gly
XM_005263914.2:c.2318T>G XP_005263971.1:p.Val773Gly
XM_005263915.2:c.*12T>G XP_005263972.1:n.*12T>G
XM_005263914.4:c.2318T>G XP_005263971.1:p.Val773Gly
XM_005263915.4:c.*12T>G XP_005263972.1:n.*12T>G
XM_017003799.1:c.716T>G XP_016859288.1:p.Val239Gly
NM_020184.4:c.2255T>G MANE Select NP_064569.3:p.Val752Gly
Search 100 bp 5'
Search 100 bp 3'