Canonical Allele Identifier: CA423032450

Gene: LAMB3

Linked Data

• dbSNP Id: rs1057516809
• gnomAD v3: 1-209630688-A-G
• gnomAD v4: 1-209630688-A-G
• MyVariant Identifiers: chr1:g.209804033A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209630688A>G , CM000663.2:g.209630688A>G	GRCh38
NC_000001.10:g.209804033A>G , CM000663.1:g.209804033A>G	GRCh37
NC_000001.9:g.207870656A>G	NCBI36
NG_007116.1:g.26788T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.870T>C MANE Select	ENSP00000348384.3:p.Cys290=
ENST00000356082.8:c.870T>C	ENSP00000348384.3:p.Cys290=
ENST00000367030.7:c.870T>C	ENSP00000355997.3:p.Cys290=
ENST00000391911.5:c.870T>C	ENSP00000375778.1:p.Cys290=
NM_000228.2:c.870T>C	NP_000219.2:p.Cys290=
NM_001017402.1:c.870T>C	NP_001017402.1:p.Cys290=
NM_001127641.1:c.870T>C	NP_001121113.1:p.Cys290=
XM_005273124.3:c.870T>C	XP_005273181.1:p.Cys290=
XM_005273124.4:c.870T>C	XP_005273181.1:p.Cys290=
XM_017001272.2:c.678T>C	XP_016856761.1:p.Cys226=
NM_000228.3:c.870T>C MANE Select	NP_000219.2:p.Cys290=
NM_001017402.2:c.870T>C	NP_001017402.1:p.Cys290=