Canonical Allele Identifier: CA6671045
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1592071
ClinVar RCV Id: RCV002096517 RCV003978650
dbSNP Id: rs746792069
ExAC: 12:65632477 T / C
gnomAD v2: 12-65632477-T-C
gnomAD v3: 12-65238697-T-C
gnomAD v4: 12-65238697-T-C
COSMIC: COSM6302089
MyVariant Identifiers: chr12:g.65632477T>C (hg19) chr12:g.65238697T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238697T>C , CM000674.2:g.65238697T>C GRCh38
NC_000012.11:g.65632477T>C , CM000674.1:g.65632477T>C GRCh37
NC_000012.10:g.63918744T>C NCBI36
NG_016210.1:g.74127T>C
NG_016210.2:g.74127T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1804T>C MANE Select ENSP00000308369.2:p.Leu602=
ENST00000308330.2:c.1804T>C ENSP00000308369.2:p.Leu602=
NM_001167614.1:c.1801T>C NP_001161086.1:p.Leu601=
NM_014319.4:c.1804T>C NP_055134.2:p.Leu602=
NM_014319.5:c.1804T>C MANE Select NP_055134.2:p.Leu602=
NM_001167614.2:c.1801T>C NP_001161086.1:p.Leu601=
Search 100 bp 5'
Search 100 bp 3'