Canonical Allele Identifier: CA2488889
Gene: LMOD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 475335
ClinVar RCV Id: RCV000532830
dbSNP Id: rs181434087
ExAC: 3:69168579 A / G
gnomAD v2: 3-69168579-A-G
gnomAD v3: 3-69119428-A-G
gnomAD v4: 3-69119428-A-G
MyVariant Identifiers: chr3:g.69168579A>G (hg19) chr3:g.69119428A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69119428A>G , CM000665.2:g.69119428A>G GRCh38
NC_000003.11:g.69168579A>G , CM000665.1:g.69168579A>G GRCh37
NC_000003.10:g.69251269A>G NCBI36
NG_041828.1:g.8168T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000420581.7:c.927T>C MANE Select ENSP00000414670.3:p.Asn309=
ENST00000420581.6:c.927T>C ENSP00000414670.2:p.Asn309=
ENST00000475434.1:c.927T>C ENSP00000418645.1:p.Asn309=
ENST00000489031.5:c.927T>C ENSP00000417210.1:p.Asn309=
NM_001304418.1:c.927T>C NP_001291347.1:p.Asn309=
NM_198271.4:c.927T>C NP_938012.2:p.Asn309=
NM_001304418.3:c.927T>C NP_001291347.1:p.Asn309=
NM_198271.5:c.927T>C MANE Select NP_938012.2:p.Asn309=
Search 100 bp 5'
Search 100 bp 3'