Canonical Allele Identifier: CA16040697
Gene: LAMB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 370208
ClinVar RCV Id: RCV000412071
dbSNP Id: rs1057516316
MyVariant Identifiers: chr1:g.209803185A>T (hg19) chr1:g.209629840A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209629840A>T , CM000663.2:g.209629840A>T GRCh38
NC_000001.10:g.209803185A>T , CM000663.1:g.209803185A>T GRCh37
NC_000001.9:g.207869808A>T NCBI36
NG_007116.1:g.27636T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356082.9:c.1029T>A MANE Select ENSP00000348384.3:p.Cys343Ter
ENST00000356082.8:c.1029T>A ENSP00000348384.3:p.Cys343Ter
ENST00000367030.7:c.1029T>A ENSP00000355997.3:p.Cys343Ter
ENST00000391911.5:c.1029T>A ENSP00000375778.1:p.Cys343Ter
NM_000228.2:c.1029T>A NP_000219.2:p.Cys343Ter
NM_001017402.1:c.1029T>A NP_001017402.1:p.Cys343Ter
NM_001127641.1:c.1029T>A NP_001121113.1:p.Cys343Ter
XM_005273124.3:c.1029T>A XP_005273181.1:p.Cys343Ter
XM_005273124.4:c.1029T>A XP_005273181.1:p.Cys343Ter
XM_017001272.2:c.837T>A XP_016856761.1:p.Cys279Ter
NM_000228.3:c.1029T>A MANE Select NP_000219.2:p.Cys343Ter
NM_001017402.2:c.1029T>A NP_001017402.1:p.Cys343Ter
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