Canonical Allele Identifier: CA1376096

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 2185570
• ClinVar RCV Id: RCV002596212
• dbSNP Id: rs761173046
• ExAC: 1:209823367 C / T
• gnomAD v2: 1-209823367-C-T
• gnomAD v3: 1-209650022-C-T
• gnomAD v4: 1-209650022-C-T
• MyVariant Identifiers: chr1:g.209823367C>T (hg19) ; chr1:g.209650022C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209650022C>T , CM000663.2:g.209650022C>T	GRCh38
NC_000001.10:g.209823367C>T , CM000663.1:g.209823367C>T	GRCh37
NC_000001.9:g.207889990C>T	NCBI36
NG_007116.1:g.7454G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.125G>A MANE Select	ENSP00000348384.3:p.Arg42Gln
ENST00000356082.8:c.125G>A	ENSP00000348384.3:p.Arg42Gln
ENST00000367030.7:c.125G>A	ENSP00000355997.3:p.Arg42Gln
ENST00000391911.5:c.125G>A	ENSP00000375778.1:p.Arg42Gln
ENST00000415782.1:c.125G>A	ENSP00000388960.1:p.Arg42Gln
NM_000228.2:c.125G>A	NP_000219.2:p.Arg42Gln
NM_001017402.1:c.125G>A	NP_001017402.1:p.Arg42Gln
NM_001127641.1:c.125G>A	NP_001121113.1:p.Arg42Gln
XM_005273124.3:c.125G>A	XP_005273181.1:p.Arg42Gln
XM_005273124.4:c.125G>A	XP_005273181.1:p.Arg42Gln
XM_017001272.2:c.125G>A	XP_016856761.1:p.Arg42Gln
NM_000228.3:c.125G>A MANE Select	NP_000219.2:p.Arg42Gln
NM_001017402.2:c.125G>A	NP_001017402.1:p.Arg42Gln