Canonical Allele Identifier: CA2650320424

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 2916607
• ClinVar RCV Id: RCV003740445
• gnomAD v4: 1-209617892-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209617892G>A , CM000663.2:g.209617892G>A	GRCh38
NC_000001.10:g.209791237G>A , CM000663.1:g.209791237G>A	GRCh37
NC_000001.9:g.207857860G>A	NCBI36
NG_007116.1:g.39584C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.3051+15C>T MANE Select	ENSP00000348384.3:n.3051+15C>T
ENST00000356082.8:c.3051+15C>T	ENSP00000348384.3:n.3051+15C>T
ENST00000367030.7:c.3051+15C>T	ENSP00000355997.3:n.3051+15C>T
ENST00000391911.5:c.3051+15C>T	ENSP00000375778.1:n.3051+15C>T
ENST00000455193.1:c.258+15C>T	ENSP00000398683.1:n.258+15C>T
NM_000228.2:c.3051+15C>T	NP_000219.2:n.3051+15C>T
NM_001017402.1:c.3051+15C>T	NP_001017402.1:n.3051+15C>T
NM_001127641.1:c.3051+15C>T	NP_001121113.1:n.3051+15C>T
XM_005273124.3:c.3051+15C>T	XP_005273181.1:n.3051+15C>T
XM_005273124.4:c.3051+15C>T	XP_005273181.1:n.3051+15C>T
XM_017001272.2:c.2859+15C>T	XP_016856761.1:n.2859+15C>T
NM_000228.3:c.3051+15C>T MANE Select	NP_000219.2:n.3051+15C>T
NM_001017402.2:c.3051+15C>T	NP_001017402.1:n.3051+15C>T