Canonical Allele Identifier: CA1375693
Gene: LAMB3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.209629732C>T
GRCh37 chr1:g.209803077C>T
gnomAD v2:
1:209803077 C / T
gnomAD v3:
1:209629732 C / T
gnomAD v4:
chr1-209629732-C-T
Joint Max Group AF 0.00002665 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00002626 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209629732C>T , CM000663.2:g.209629732C>T GRCh38
NC_000001.10:g.209803077C>T , CM000663.1:g.209803077C>T GRCh37
NC_000001.9:g.207869700C>T NCBI36
NG_007116.1:g.27744G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356082.9:c.1132+5G>A MANE Select ENSP00000348384.3:n.1132+5G>A
ENST00000356082.8:c.1132+5G>A ENSP00000348384.3:n.1132+5G>A
ENST00000367030.7:c.1132+5G>A ENSP00000355997.3:n.1132+5G>A
ENST00000391911.5:c.1132+5G>A ENSP00000375778.1:n.1132+5G>A
NM_000228.2:c.1132+5G>A NP_000219.2:n.1132+5G>A
NM_001017402.1:c.1132+5G>A NP_001017402.1:n.1132+5G>A
NM_001127641.1:c.1132+5G>A NP_001121113.1:n.1132+5G>A
XM_005273124.3:c.1132+5G>A XP_005273181.1:n.1132+5G>A
XM_005273124.4:c.1132+5G>A XP_005273181.1:n.1132+5G>A
XM_017001272.2:c.940+5G>A XP_016856761.1:n.940+5G>A
NM_000228.3:c.1132+5G>A MANE Select NP_000219.2:n.1132+5G>A
NM_001017402.2:c.1132+5G>A NP_001017402.1:n.1132+5G>A
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