Canonical Allele Identifier: CA2488899

Gene: LMOD3

Linked Data

• ClinVar Variation Id: 475334
• ClinVar RCV Id: RCV000558808 ; RCV001662599
• dbSNP Id: rs111797345
• ExAC: 3:69168628 C / T
• gnomAD v2: 3-69168628-C-T
• gnomAD v3: 3-69119477-C-T
• gnomAD v4: 3-69119477-C-T
• MyVariant Identifiers: chr3:g.69168628C>T (hg19) ; chr3:g.69119477C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69119477C>T , CM000665.2:g.69119477C>T	GRCh38
NC_000003.11:g.69168628C>T , CM000665.1:g.69168628C>T	GRCh37
NC_000003.10:g.69251318C>T	NCBI36
NG_041828.1:g.8119G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420581.7:c.878G>A MANE Select	ENSP00000414670.3:p.Gly293Asp
ENST00000420581.6:c.878G>A	ENSP00000414670.2:p.Gly293Asp
ENST00000475434.1:c.878G>A	ENSP00000418645.1:p.Gly293Asp
ENST00000489031.5:c.878G>A	ENSP00000417210.1:p.Gly293Asp
NM_001304418.1:c.878G>A	NP_001291347.1:p.Gly293Asp
NM_198271.4:c.878G>A	NP_938012.2:p.Gly293Asp
NM_001304418.3:c.878G>A	NP_001291347.1:p.Gly293Asp
NM_198271.5:c.878G>A MANE Select	NP_938012.2:p.Gly293Asp