Canonical Allele Identifier: CA2739275581

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 2807888
• ClinVar RCV Id: RCV003684558

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209623822G>C , CM000663.2:g.209623822G>C	GRCh38
NC_000001.10:g.209797167G>C , CM000663.1:g.209797167G>C	GRCh37
NC_000001.9:g.207863790G>C	NCBI36
NG_007116.1:g.33654C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.2137+18C>G MANE Select	ENSP00000348384.3:n.2137+18C>G
ENST00000356082.8:c.2137+18C>G	ENSP00000348384.3:n.2137+18C>G
ENST00000367030.7:c.2137+18C>G	ENSP00000355997.3:n.2137+18C>G
ENST00000391911.5:c.2137+18C>G	ENSP00000375778.1:n.2137+18C>G
NM_000228.2:c.2137+18C>G	NP_000219.2:n.2137+18C>G
NM_001017402.1:c.2137+18C>G	NP_001017402.1:n.2137+18C>G
NM_001127641.1:c.2137+18C>G	NP_001121113.1:n.2137+18C>G
XM_005273124.3:c.2137+18C>G	XP_005273181.1:n.2137+18C>G
XM_005273124.4:c.2137+18C>G	XP_005273181.1:n.2137+18C>G
XM_017001272.2:c.1945+18C>G	XP_016856761.1:n.1945+18C>G
NM_000228.3:c.2137+18C>G MANE Select	NP_000219.2:n.2137+18C>G
NM_001017402.2:c.2137+18C>G	NP_001017402.1:n.2137+18C>G