Canonical Allele Identifier: CA6671083
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1645010
ClinVar RCV Id: RCV002143610
dbSNP Id: rs373040508
ExAC: 12:65633728 C / G
gnomAD v2: 12-65633728-C-G
gnomAD v3: 12-65239948-C-G
gnomAD v4: 12-65239948-C-G
MyVariant Identifiers: chr12:g.65633728C>G (hg19) chr12:g.65239948C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65239948C>G , CM000674.2:g.65239948C>G GRCh38
NC_000012.11:g.65633728C>G , CM000674.1:g.65633728C>G GRCh37
NC_000012.10:g.63919995C>G NCBI36
NG_016210.1:g.75378C>G
NG_016210.2:g.75378C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1941C>G MANE Select ENSP00000308369.2:p.Val647=
ENST00000308330.2:c.1941C>G ENSP00000308369.2:p.Val647=
NM_001167614.1:c.1938C>G NP_001161086.1:p.Val646=
NM_014319.4:c.1941C>G NP_055134.2:p.Val647=
NM_014319.5:c.1941C>G MANE Select NP_055134.2:p.Val647=
NM_001167614.2:c.1938C>G NP_001161086.1:p.Val646=
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