Canonical Allele Identifier: CA249110

Gene: LMOD3

Linked Data

• ClinVar Variation Id: 218866
• ClinVar RCV Id: RCV000202913 ; RCV000540110 ; RCV003437005
• dbSNP Id: rs201205115
• ExAC: 3:69158262 G / T
• gnomAD v2: 3-69158262-G-T
• gnomAD v3: 3-69109111-G-T
• gnomAD v4: 3-69109111-G-T
• MyVariant Identifiers: chr3:g.69158262G>T (hg19) ; chr3:g.69109111G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69109111G>T , CM000665.2:g.69109111G>T	GRCh38
NC_000003.11:g.69158262G>T , CM000665.1:g.69158262G>T	GRCh37
NC_000003.10:g.69240952G>T	NCBI36
NG_041828.1:g.18485C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420581.7:c.1667C>A MANE Select	ENSP00000414670.3:p.Pro556Gln
ENST00000420581.6:c.1667C>A	ENSP00000414670.2:p.Pro556Gln
ENST00000475434.1:c.1667C>A	ENSP00000418645.1:p.Pro556Gln
ENST00000489031.5:c.1667C>A	ENSP00000417210.1:p.Pro556Gln
NM_001304418.1:c.1667C>A	NP_001291347.1:p.Pro556Gln
NM_198271.4:c.1667C>A	NP_938012.2:p.Pro556Gln
NM_001304418.3:c.1667C>A	NP_001291347.1:p.Pro556Gln
NM_198271.5:c.1667C>A MANE Select	NP_938012.2:p.Pro556Gln