Canonical Allele Identifier: CA1375073

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 2383304
• ClinVar RCV Id: RCV002689367
• dbSNP Id: rs146501772
• ExAC: 1:209791828 G / A
• gnomAD v2: 1-209791828-G-A
• gnomAD v3: 1-209618483-G-A
• gnomAD v4: 1-209618483-G-A
• MyVariant Identifiers: chr1:g.209791828G>A (hg19) ; chr1:g.209618483G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209618483G>A , CM000663.2:g.209618483G>A	GRCh38
NC_000001.10:g.209791828G>A , CM000663.1:g.209791828G>A	GRCh37
NC_000001.9:g.207858451G>A	NCBI36
NG_007116.1:g.38993C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.2878C>T MANE Select	ENSP00000348384.3:p.Arg960Cys
ENST00000356082.8:c.2878C>T	ENSP00000348384.3:p.Arg960Cys
ENST00000367030.7:c.2878C>T	ENSP00000355997.3:p.Arg960Cys
ENST00000391911.5:c.2878C>T	ENSP00000375778.1:p.Arg960Cys
ENST00000455193.1:c.85C>T	ENSP00000398683.1:p.Arg29Cys
NM_000228.2:c.2878C>T	NP_000219.2:p.Arg960Cys
NM_001017402.1:c.2878C>T	NP_001017402.1:p.Arg960Cys
NM_001127641.1:c.2878C>T	NP_001121113.1:p.Arg960Cys
XM_005273124.3:c.2878C>T	XP_005273181.1:p.Arg960Cys
XM_005273124.4:c.2878C>T	XP_005273181.1:p.Arg960Cys
XM_017001272.2:c.2686C>T	XP_016856761.1:p.Arg896Cys
NM_000228.3:c.2878C>T MANE Select	NP_000219.2:p.Arg960Cys
NM_001017402.2:c.2878C>T	NP_001017402.1:p.Arg960Cys