Canonical Allele Identifier: CA1375780

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 295123
• ClinVar RCV Id: RCV000407169 ; RCV000902468 ; RCV003949979
• dbSNP Id: rs141059189
• ExAC: 1:209803976 G / A
• gnomAD v2: 1-209803976-G-A
• gnomAD v3: 1-209630631-G-A
• gnomAD v4: 1-209630631-G-A
• MyVariant Identifiers: chr1:g.209803976G>A (hg19) ; chr1:g.209630631G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209630631G>A , CM000663.2:g.209630631G>A	GRCh38
NC_000001.10:g.209803976G>A , CM000663.1:g.209803976G>A	GRCh37
NC_000001.9:g.207870599G>A	NCBI36
NG_007116.1:g.26845C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.927C>T MANE Select	ENSP00000348384.3:p.Asp309=
ENST00000356082.8:c.927C>T	ENSP00000348384.3:p.Asp309=
ENST00000367030.7:c.927C>T	ENSP00000355997.3:p.Asp309=
ENST00000391911.5:c.927C>T	ENSP00000375778.1:p.Asp309=
NM_000228.2:c.927C>T	NP_000219.2:p.Asp309=
NM_001017402.1:c.927C>T	NP_001017402.1:p.Asp309=
NM_001127641.1:c.927C>T	NP_001121113.1:p.Asp309=
XM_005273124.3:c.927C>T	XP_005273181.1:p.Asp309=
XM_005273124.4:c.927C>T	XP_005273181.1:p.Asp309=
XM_017001272.2:c.735C>T	XP_016856761.1:p.Asp245=
NM_000228.3:c.927C>T MANE Select	NP_000219.2:p.Asp309=
NM_001017402.2:c.927C>T	NP_001017402.1:p.Asp309=