Canonical Allele Identifier: CA6670839
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 310232
ClinVar RCV Id: RCV000306916 RCV000977294 RCV004021553
dbSNP Id: rs376822761
ExAC: 12:65564451 G / A
gnomAD v2: 12-65564451-G-A
gnomAD v3: 12-65170671-G-A
gnomAD v4: 12-65170671-G-A
MyVariant Identifiers: chr12:g.65564451G>A (hg19) chr12:g.65170671G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170671G>A , CM000674.2:g.65170671G>A GRCh38
NC_000012.11:g.65564451G>A , CM000674.1:g.65564451G>A GRCh37
NC_000012.10:g.63850718G>A NCBI36
NG_016210.1:g.6101G>A
NG_016210.2:g.6101G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1075G>A MANE Select ENSP00000308369.2:p.Val359Ile
ENST00000308330.2:c.1075G>A ENSP00000308369.2:p.Val359Ile
ENST00000541171.1:n.836+253G>A
NM_001167614.1:c.1075G>A NP_001161086.1:p.Val359Ile
NM_014319.4:c.1075G>A NP_055134.2:p.Val359Ile
NM_014319.5:c.1075G>A MANE Select NP_055134.2:p.Val359Ile
NM_001167614.2:c.1075G>A NP_001161086.1:p.Val359Ile
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