Canonical Allele Identifier: CA423142678

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 1582962
• ClinVar RCV Id: RCV002111339
• dbSNP Id: rs766320452
• gnomAD v4: 1-209625842-C-T
• MyVariant Identifiers: chr1:g.209799187C>T (hg19) ; chr1:g.209625842C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209625842C>T , CM000663.2:g.209625842C>T	GRCh38
NC_000001.10:g.209799187C>T , CM000663.1:g.209799187C>T	GRCh37
NC_000001.9:g.207865810C>T	NCBI36
NG_007116.1:g.31634G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1782G>A MANE Select	ENSP00000348384.3:p.Glu594=
ENST00000356082.8:c.1782G>A	ENSP00000348384.3:p.Glu594=
ENST00000367030.7:c.1782G>A	ENSP00000355997.3:p.Glu594=
ENST00000391911.5:c.1782G>A	ENSP00000375778.1:p.Glu594=
NM_000228.2:c.1782G>A	NP_000219.2:p.Glu594=
NM_001017402.1:c.1782G>A	NP_001017402.1:p.Glu594=
NM_001127641.1:c.1782G>A	NP_001121113.1:p.Glu594=
XM_005273124.3:c.1782G>A	XP_005273181.1:p.Glu594=
XM_005273124.4:c.1782G>A	XP_005273181.1:p.Glu594=
XM_017001272.2:c.1590G>A	XP_016856761.1:p.Glu530=
NM_000228.3:c.1782G>A MANE Select	NP_000219.2:p.Glu594=
NM_001017402.2:c.1782G>A	NP_001017402.1:p.Glu594=