Canonical Allele Identifier: CA36759887

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 1147672
• ClinVar RCV Id: RCV001487284
• dbSNP Id: rs1015461881
• gnomAD v4: 1-209633060-C-A
• MyVariant Identifiers: chr1:g.209806405C>A (hg19) ; chr1:g.209633060C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209633060C>A , CM000663.2:g.209633060C>A	GRCh38
NC_000001.10:g.209806405C>A , CM000663.1:g.209806405C>A	GRCh37
NC_000001.9:g.207873028C>A	NCBI36
NG_007116.1:g.24416G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.628+10G>T MANE Select	ENSP00000348384.3:n.628+10G>T
ENST00000356082.8:c.628+10G>T	ENSP00000348384.3:n.628+10G>T
ENST00000367030.7:c.628+10G>T	ENSP00000355997.3:n.628+10G>T
ENST00000391911.5:c.628+10G>T	ENSP00000375778.1:n.628+10G>T
NM_000228.2:c.628+10G>T	NP_000219.2:n.628+10G>T
NM_001017402.1:c.628+10G>T	NP_001017402.1:n.628+10G>T
NM_001127641.1:c.628+10G>T	NP_001121113.1:n.628+10G>T
XM_005273124.3:c.628+10G>T	XP_005273181.1:n.628+10G>T
XM_005273124.4:c.628+10G>T	XP_005273181.1:n.628+10G>T
XM_017001272.2:c.436+10G>T	XP_016856761.1:n.436+10G>T
NM_000228.3:c.628+10G>T MANE Select	NP_000219.2:n.628+10G>T
NM_001017402.2:c.628+10G>T	NP_001017402.1:n.628+10G>T