Canonical Allele Identifier: CA2488778

Gene: LMOD3

Linked Data

• ClinVar Variation Id: 542082
• ClinVar RCV Id: RCV000652460 ; RCV002530548
• dbSNP Id: rs750502860
• ExAC: 3:69168065 C / T
• gnomAD v2: 3-69168065-C-T
• gnomAD v3: 3-69118914-C-T
• gnomAD v4: 3-69118914-C-T
• MyVariant Identifiers: chr3:g.69168065C>T (hg19) ; chr3:g.69118914C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69118914C>T , CM000665.2:g.69118914C>T	GRCh38
NC_000003.11:g.69168065C>T , CM000665.1:g.69168065C>T	GRCh37
NC_000003.10:g.69250755C>T	NCBI36
NG_041828.1:g.8682G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420581.7:c.1441G>A MANE Select	ENSP00000414670.3:p.Asp481Asn
ENST00000420581.6:c.1441G>A	ENSP00000414670.2:p.Asp481Asn
ENST00000475434.1:c.1441G>A	ENSP00000418645.1:p.Asp481Asn
ENST00000489031.5:c.1441G>A	ENSP00000417210.1:p.Asp481Asn
NM_001304418.1:c.1441G>A	NP_001291347.1:p.Asp481Asn
NM_198271.4:c.1441G>A	NP_938012.2:p.Asp481Asn
NM_001304418.3:c.1441G>A	NP_001291347.1:p.Asp481Asn
NM_198271.5:c.1441G>A MANE Select	NP_938012.2:p.Asp481Asn