Canonical Allele Identifier: CA1375064

Gene: LAMB3

Linked Data

• dbSNP Id: rs74954839
• ExAC: 1:209791767 C / T
• gnomAD v2: 1-209791767-C-T
• gnomAD v3: 1-209618422-C-T
• gnomAD v4: 1-209618422-C-T
• MyVariant Identifiers: chr1:g.209791767C>T (hg19) ; chr1:g.209618422C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209618422C>T , CM000663.2:g.209618422C>T	GRCh38
NC_000001.10:g.209791767C>T , CM000663.1:g.209791767C>T	GRCh37
NC_000001.9:g.207858390C>T	NCBI36
NG_007116.1:g.39054G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.2909+30G>A MANE Select	ENSP00000348384.3:n.2909+30G>A
ENST00000356082.8:c.2909+30G>A	ENSP00000348384.3:n.2909+30G>A
ENST00000367030.7:c.2909+30G>A	ENSP00000355997.3:n.2909+30G>A
ENST00000391911.5:c.2909+30G>A	ENSP00000375778.1:n.2909+30G>A
ENST00000455193.1:c.116+30G>A	ENSP00000398683.1:n.116+30G>A
NM_000228.2:c.2909+30G>A	NP_000219.2:n.2909+30G>A
NM_001017402.1:c.2909+30G>A	NP_001017402.1:n.2909+30G>A
NM_001127641.1:c.2909+30G>A	NP_001121113.1:n.2909+30G>A
XM_005273124.3:c.2909+30G>A	XP_005273181.1:n.2909+30G>A
XM_005273124.4:c.2909+30G>A	XP_005273181.1:n.2909+30G>A
XM_017001272.2:c.2717+30G>A	XP_016856761.1:n.2717+30G>A
NM_000228.3:c.2909+30G>A MANE Select	NP_000219.2:n.2909+30G>A
NM_001017402.2:c.2909+30G>A	NP_001017402.1:n.2909+30G>A