Canonical Allele Identifier: CA1375811

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 2975819
• ClinVar RCV Id: RCV003833905
• dbSNP Id: rs747405176
• ExAC: 1:209804087 G / C
• gnomAD v2: 1-209804087-G-C
• gnomAD v3: 1-209630742-G-C
• gnomAD v4: 1-209630742-G-C
• MyVariant Identifiers: chr1:g.209804087G>C (hg19) ; chr1:g.209630742G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209630742G>C , CM000663.2:g.209630742G>C	GRCh38
NC_000001.10:g.209804087G>C , CM000663.1:g.209804087G>C	GRCh37
NC_000001.9:g.207870710G>C	NCBI36
NG_007116.1:g.26734C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.823-7C>G MANE Select	ENSP00000348384.3:n.823-7C>G
ENST00000356082.8:c.823-7C>G	ENSP00000348384.3:n.823-7C>G
ENST00000367030.7:c.823-7C>G	ENSP00000355997.3:n.823-7C>G
ENST00000391911.5:c.823-7C>G	ENSP00000375778.1:n.823-7C>G
NM_000228.2:c.823-7C>G	NP_000219.2:n.823-7C>G
NM_001017402.1:c.823-7C>G	NP_001017402.1:n.823-7C>G
NM_001127641.1:c.823-7C>G	NP_001121113.1:n.823-7C>G
XM_005273124.3:c.823-7C>G	XP_005273181.1:n.823-7C>G
XM_005273124.4:c.823-7C>G	XP_005273181.1:n.823-7C>G
XM_017001272.2:c.631-7C>G	XP_016856761.1:n.631-7C>G
NM_000228.3:c.823-7C>G MANE Select	NP_000219.2:n.823-7C>G
NM_001017402.2:c.823-7C>G	NP_001017402.1:n.823-7C>G