Canonical Allele Identifier: CA2488886
Gene: LMOD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1015855
ClinVar RCV Id: RCV001314775
dbSNP Id: rs761586160
ExAC: 3:69168555 G / C
gnomAD v2: 3-69168555-G-C
gnomAD v3: 3-69119404-G-C
gnomAD v4: 3-69119404-G-C
MyVariant Identifiers: chr3:g.69168555G>C (hg19) chr3:g.69119404G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69119404G>C , CM000665.2:g.69119404G>C GRCh38
NC_000003.11:g.69168555G>C , CM000665.1:g.69168555G>C GRCh37
NC_000003.10:g.69251245G>C NCBI36
NG_041828.1:g.8192C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000420581.7:c.951C>G MANE Select ENSP00000414670.3:p.Ile317Met
ENST00000420581.6:c.951C>G ENSP00000414670.2:p.Ile317Met
ENST00000475434.1:c.951C>G ENSP00000418645.1:p.Ile317Met
ENST00000489031.5:c.951C>G ENSP00000417210.1:p.Ile317Met
NM_001304418.1:c.951C>G NP_001291347.1:p.Ile317Met
NM_198271.4:c.951C>G NP_938012.2:p.Ile317Met
NM_001304418.3:c.951C>G NP_001291347.1:p.Ile317Met
NM_198271.5:c.951C>G MANE Select NP_938012.2:p.Ile317Met
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