Canonical Allele Identifier: CA16040688
Gene: LAMB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 370778
ClinVar RCV Id: RCV000411623 RCV001383059 RCV001449796
dbSNP Id: rs1057516759
MyVariant Identifiers: chr1:g.209790864C>T (hg19) chr1:g.209617519C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209617519C>T , CM000663.2:g.209617519C>T GRCh38
NC_000001.10:g.209790864C>T , CM000663.1:g.209790864C>T GRCh37
NC_000001.9:g.207857487C>T NCBI36
NG_007116.1:g.39957G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356082.9:c.3119G>A MANE Select ENSP00000348384.3:p.Trp1040Ter
ENST00000356082.8:c.3119G>A ENSP00000348384.3:p.Trp1040Ter
ENST00000367030.7:c.3119G>A ENSP00000355997.3:p.Trp1040Ter
ENST00000391911.5:c.3119G>A ENSP00000375778.1:p.Trp1040Ter
ENST00000455193.1:c.326G>A ENSP00000398683.1:p.Trp109Ter
NM_000228.2:c.3119G>A NP_000219.2:p.Trp1040Ter
NM_001017402.1:c.3119G>A NP_001017402.1:p.Trp1040Ter
NM_001127641.1:c.3119G>A NP_001121113.1:p.Trp1040Ter
XM_005273124.3:c.3119G>A XP_005273181.1:p.Trp1040Ter
XM_005273124.4:c.3119G>A XP_005273181.1:p.Trp1040Ter
XM_017001272.2:c.2927G>A XP_016856761.1:p.Trp976Ter
NM_000228.3:c.3119G>A MANE Select NP_000219.2:p.Trp1040Ter
NM_001017402.2:c.3119G>A NP_001017402.1:p.Trp1040Ter
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