Canonical Allele Identifier: CA5286628
Gene: LAMC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 291084
ClinVar RCV Id: RCV000388002 RCV000415912
dbSNP Id: rs137883250
ExAC: 9:133884600 C / T
gnomAD v2: 9-133884600-C-T
gnomAD v3: 9-131009213-C-T
gnomAD v4: 9-131009213-C-T
MyVariant Identifiers: chr9:g.133884600C>T (hg19) chr9:g.131009213C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131009213C>T , CM000671.2:g.131009213C>T GRCh38
NC_000009.11:g.133884600C>T , CM000671.1:g.133884600C>T GRCh37
NC_000009.10:g.132874421C>T NCBI36
NG_029800.1:g.5097C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361069.9:c.-2C>T MANE Select ENSP00000354360.4:n.-2C>T
ENST00000361069.8:c.-2C>T ENSP00000354360.4:n.-2C>T
ENST00000480883.1:n.40C>T
NM_006059.3:c.-2C>T NP_006050.3:n.-2C>T
XM_006716921.1:c.-2C>T XP_006716984.1:n.-2C>T
XM_011518121.1:c.-2C>T XP_011516423.1:n.-2C>T
XM_006716921.2:c.-2C>T XP_006716984.1:n.-2C>T
NM_006059.4:c.-2C>T MANE Select NP_006050.3:n.-2C>T
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