Canonical Allele Identifier: CA36750017

Gene: LAMB3

Linked Data

• dbSNP Id: rs1011042434
• gnomAD v2: 1-209791570-A-G
• gnomAD v3: 1-209618225-A-G
• gnomAD v4: 1-209618225-A-G
• MyVariant Identifiers: chr1:g.209791570A>G (hg19) ; chr1:g.209618225A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209618225A>G , CM000663.2:g.209618225A>G	GRCh38
NC_000001.10:g.209791570A>G , CM000663.1:g.209791570A>G	GRCh37
NC_000001.9:g.207858193A>G	NCBI36
NG_007116.1:g.39251T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.2910-177T>C MANE Select	ENSP00000348384.3:n.2910-177T>C
ENST00000356082.8:c.2910-177T>C	ENSP00000348384.3:n.2910-177T>C
ENST00000367030.7:c.2910-177T>C	ENSP00000355997.3:n.2910-177T>C
ENST00000391911.5:c.2910-177T>C	ENSP00000375778.1:n.2910-177T>C
ENST00000455193.1:c.117-177T>C	ENSP00000398683.1:n.117-177T>C
NM_000228.2:c.2910-177T>C	NP_000219.2:n.2910-177T>C
NM_001017402.1:c.2910-177T>C	NP_001017402.1:n.2910-177T>C
NM_001127641.1:c.2910-177T>C	NP_001121113.1:n.2910-177T>C
XM_005273124.3:c.2910-177T>C	XP_005273181.1:n.2910-177T>C
XM_005273124.4:c.2910-177T>C	XP_005273181.1:n.2910-177T>C
XM_017001272.2:c.2718-177T>C	XP_016856761.1:n.2718-177T>C
NM_000228.3:c.2910-177T>C MANE Select	NP_000219.2:n.2910-177T>C
NM_001017402.2:c.2910-177T>C	NP_001017402.1:n.2910-177T>C