Canonical Allele Identifier: CA1375690

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 2888882
• ClinVar RCV Id: RCV003717463
• dbSNP Id: rs563766357
• ExAC: 1:209803066 C / T
• gnomAD v2: 1-209803066-C-T
• gnomAD v3: 1-209629721-C-T
• gnomAD v4: 1-209629721-C-T
• MyVariant Identifiers: chr1:g.209803066C>T (hg19) ; chr1:g.209629721C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209629721C>T , CM000663.2:g.209629721C>T	GRCh38
NC_000001.10:g.209803066C>T , CM000663.1:g.209803066C>T	GRCh37
NC_000001.9:g.207869689C>T	NCBI36
NG_007116.1:g.27755G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1132+16G>A MANE Select	ENSP00000348384.3:n.1132+16G>A
ENST00000356082.8:c.1132+16G>A	ENSP00000348384.3:n.1132+16G>A
ENST00000367030.7:c.1132+16G>A	ENSP00000355997.3:n.1132+16G>A
ENST00000391911.5:c.1132+16G>A	ENSP00000375778.1:n.1132+16G>A
NM_000228.2:c.1132+16G>A	NP_000219.2:n.1132+16G>A
NM_001017402.1:c.1132+16G>A	NP_001017402.1:n.1132+16G>A
NM_001127641.1:c.1132+16G>A	NP_001121113.1:n.1132+16G>A
XM_005273124.3:c.1132+16G>A	XP_005273181.1:n.1132+16G>A
XM_005273124.4:c.1132+16G>A	XP_005273181.1:n.1132+16G>A
XM_017001272.2:c.940+16G>A	XP_016856761.1:n.940+16G>A
NM_000228.3:c.1132+16G>A MANE Select	NP_000219.2:n.1132+16G>A
NM_001017402.2:c.1132+16G>A	NP_001017402.1:n.1132+16G>A