Canonical Allele Identifier: CA385671804
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1473862
ClinVar RCV Id: RCV001970906
dbSNP Id: rs1297889917
gnomAD v2: 12-65633729-G-A
gnomAD v3: 12-65239949-G-A
gnomAD v4: 12-65239949-G-A
MyVariant Identifiers: chr12:g.65633729G>A (hg19) chr12:g.65239949G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65239949G>A , CM000674.2:g.65239949G>A GRCh38
NC_000012.11:g.65633729G>A , CM000674.1:g.65633729G>A GRCh37
NC_000012.10:g.63919996G>A NCBI36
NG_016210.1:g.75379G>A
NG_016210.2:g.75379G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1942G>A MANE Select ENSP00000308369.2:p.Val648Ile
ENST00000308330.2:c.1942G>A ENSP00000308369.2:p.Val648Ile
NM_001167614.1:c.1939G>A NP_001161086.1:p.Val647Ile
NM_014319.4:c.1942G>A NP_055134.2:p.Val648Ile
NM_014319.5:c.1942G>A MANE Select NP_055134.2:p.Val648Ile
NM_001167614.2:c.1939G>A NP_001161086.1:p.Val647Ile
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