Canonical Allele Identifier: CA344597509

Gene: LAMB3

Linked Data

• dbSNP Id: rs2076425196
• gnomAD v3: 1-209638533-C-A
• gnomAD v4: 1-209638533-C-A
• MyVariant Identifiers: chr1:g.209811878C>A (hg19) ; chr1:g.209638533C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209638533C>A , CM000663.2:g.209638533C>A	GRCh38
NC_000001.10:g.209811878C>A , CM000663.1:g.209811878C>A	GRCh37
NC_000001.9:g.207878501C>A	NCBI36
NG_007116.1:g.18943G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.298+1G>T MANE Select	ENSP00000348384.3:n.298+1G>T
ENST00000356082.8:c.298+1G>T	ENSP00000348384.3:n.298+1G>T
ENST00000367030.7:c.298+1G>T	ENSP00000355997.3:n.298+1G>T
ENST00000391911.5:c.298+1G>T	ENSP00000375778.1:n.298+1G>T
ENST00000415782.1:c.298+1G>T	ENSP00000388960.1:n.298+1G>T
NM_000228.2:c.298+1G>T	NP_000219.2:n.298+1G>T
NM_001017402.1:c.298+1G>T	NP_001017402.1:n.298+1G>T
NM_001127641.1:c.298+1G>T	NP_001121113.1:n.298+1G>T
XM_005273124.3:c.298+1G>T	XP_005273181.1:n.298+1G>T
XM_005273124.4:c.298+1G>T	XP_005273181.1:n.298+1G>T
XM_017001272.2:c.298+1G>T	XP_016856761.1:n.298+1G>T
NM_000228.3:c.298+1G>T MANE Select	NP_000219.2:n.298+1G>T
NM_001017402.2:c.298+1G>T	NP_001017402.1:n.298+1G>T