Canonical Allele Identifier: CA6671090
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2414412
ClinVar RCV Id: RCV003106745
dbSNP Id: rs772706117
ExAC: 12:65633793 T / C
gnomAD v2: 12-65633793-T-C
gnomAD v3: 12-65240013-T-C
gnomAD v4: 12-65240013-T-C
COSMIC: COSM3417066
MyVariant Identifiers: chr12:g.65633793T>C (hg19) chr12:g.65240013T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65240013T>C , CM000674.2:g.65240013T>C GRCh38
NC_000012.11:g.65633793T>C , CM000674.1:g.65633793T>C GRCh37
NC_000012.10:g.63920060T>C NCBI36
NG_016210.1:g.75443T>C
NG_016210.2:g.75443T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.2006T>C MANE Select ENSP00000308369.2:p.Met669Thr
ENST00000308330.2:c.2006T>C ENSP00000308369.2:p.Met669Thr
NM_001167614.1:c.2003T>C NP_001161086.1:p.Met668Thr
NM_014319.4:c.2006T>C NP_055134.2:p.Met669Thr
NM_014319.5:c.2006T>C MANE Select NP_055134.2:p.Met669Thr
NM_001167614.2:c.2003T>C NP_001161086.1:p.Met668Thr
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