Canonical Allele Identifier: CA10643205
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 310247
ClinVar RCV Id: RCV000389066
dbSNP Id: rs12302249
gnomAD v2: 12-65640760-C-T
gnomAD v3: 12-65246980-C-T
gnomAD v4: 12-65246980-C-T
COSMIC: COSN5949827
MyVariant Identifiers: chr12:g.65640760C>T (hg19) chr12:g.65246980C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65246980C>T , CM000674.2:g.65246980C>T GRCh38
NC_000012.11:g.65640760C>T , CM000674.1:g.65640760C>T GRCh37
NC_000012.10:g.63927027C>T NCBI36
NG_016210.1:g.82410C>T
NG_016210.2:g.82410C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000308330.3:c.*655C>T MANE Select ENSP00000308369.2:n.*655C>T
ENST00000308330.2:c.*655C>T ENSP00000308369.2:n.*655C>T
NM_001167614.1:c.*655C>T NP_001161086.1:n.*655C>T
NM_014319.4:c.*655C>T NP_055134.2:n.*655C>T
NM_014319.5:c.*655C>T MANE Select NP_055134.2:n.*655C>T
NM_001167614.2:c.*655C>T NP_001161086.1:n.*655C>T
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