Canonical Allele Identifier: CA1783209
Gene: CNNM4 HGNC NCBI

Linked Data

ClinVar Variation Id: 337581
ClinVar RCV Id: RCV000298433 RCV001519643
dbSNP Id: rs148129550
ExAC: 2:97427170 T / C
gnomAD v2: 2-97427170-T-C
gnomAD v3: 2-96761433-T-C
gnomAD v4: 2-96761433-T-C
MyVariant Identifiers: chr2:g.97427170T>C (hg19) chr2:g.96761433T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96761433T>C , CM000664.2:g.96761433T>C GRCh38
NC_000002.11:g.97427170T>C , CM000664.1:g.97427170T>C GRCh37
NC_000002.10:g.96790897T>C NCBI36
NG_016608.1:g.5532T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377075.3:c.434T>C MANE Select ENSP00000366275.2:p.Met145Thr
ENST00000377075.2:c.434T>C ENSP00000366275.2:p.Met145Thr
NM_020184.3:c.434T>C NP_064569.3:p.Met145Thr
XM_005263914.2:c.434T>C XP_005263971.1:p.Met145Thr
XM_005263915.2:c.434T>C XP_005263972.1:p.Met145Thr
XM_011510955.1:c.434T>C XP_011509257.1:p.Met145Thr
XM_011510956.1:c.434T>C XP_011509258.1:p.Met145Thr
XM_005263914.4:c.434T>C XP_005263971.1:p.Met145Thr
XM_005263915.4:c.434T>C XP_005263972.1:p.Met145Thr
XM_011510955.3:c.434T>C XP_011509257.1:p.Met145Thr
XM_011510956.3:c.434T>C XP_011509258.1:p.Met145Thr
NM_020184.4:c.434T>C MANE Select NP_064569.3:p.Met145Thr
Search 100 bp 5'
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