Canonical Allele Identifier: CA1375783

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 2536579
• ClinVar RCV Id: RCV003281663
• dbSNP Id: rs758243149
• ExAC: 1:209803983 C / T
• gnomAD v2: 1-209803983-C-T
• gnomAD v3: 1-209630638-C-T
• gnomAD v4: 1-209630638-C-T
• COSMIC: COSM3482883
• MyVariant Identifiers: chr1:g.209803983C>T (hg19) ; chr1:g.209630638C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209630638C>T , CM000663.2:g.209630638C>T	GRCh38
NC_000001.10:g.209803983C>T , CM000663.1:g.209803983C>T	GRCh37
NC_000001.9:g.207870606C>T	NCBI36
NG_007116.1:g.26838G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.920G>A MANE Select	ENSP00000348384.3:p.Gly307Asp
ENST00000356082.8:c.920G>A	ENSP00000348384.3:p.Gly307Asp
ENST00000367030.7:c.920G>A	ENSP00000355997.3:p.Gly307Asp
ENST00000391911.5:c.920G>A	ENSP00000375778.1:p.Gly307Asp
NM_000228.2:c.920G>A	NP_000219.2:p.Gly307Asp
NM_001017402.1:c.920G>A	NP_001017402.1:p.Gly307Asp
NM_001127641.1:c.920G>A	NP_001121113.1:p.Gly307Asp
XM_005273124.3:c.920G>A	XP_005273181.1:p.Gly307Asp
XM_005273124.4:c.920G>A	XP_005273181.1:p.Gly307Asp
XM_017001272.2:c.728G>A	XP_016856761.1:p.Gly243Asp
NM_000228.3:c.920G>A MANE Select	NP_000219.2:p.Gly307Asp
NM_001017402.2:c.920G>A	NP_001017402.1:p.Gly307Asp