Canonical Allele Identifier: CA16040709
Gene: LAMB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 371487
ClinVar RCV Id: RCV000409851 RCV000778966
dbSNP Id: rs1057517312
gnomAD v4: 1-209638532-A-G
MyVariant Identifiers: chr1:g.209811877A>G (hg19) chr1:g.209638532A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209638532A>G , CM000663.2:g.209638532A>G GRCh38
NC_000001.10:g.209811877A>G , CM000663.1:g.209811877A>G GRCh37
NC_000001.9:g.207878500A>G NCBI36
NG_007116.1:g.18944T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356082.9:c.298+2T>C MANE Select ENSP00000348384.3:n.298+2T>C
ENST00000356082.8:c.298+2T>C ENSP00000348384.3:n.298+2T>C
ENST00000367030.7:c.298+2T>C ENSP00000355997.3:n.298+2T>C
ENST00000391911.5:c.298+2T>C ENSP00000375778.1:n.298+2T>C
ENST00000415782.1:c.298+2T>C ENSP00000388960.1:n.298+2T>C
NM_000228.2:c.298+2T>C NP_000219.2:n.298+2T>C
NM_001017402.1:c.298+2T>C NP_001017402.1:n.298+2T>C
NM_001127641.1:c.298+2T>C NP_001121113.1:n.298+2T>C
XM_005273124.3:c.298+2T>C XP_005273181.1:n.298+2T>C
XM_005273124.4:c.298+2T>C XP_005273181.1:n.298+2T>C
XM_017001272.2:c.298+2T>C XP_016856761.1:n.298+2T>C
NM_000228.3:c.298+2T>C MANE Select NP_000219.2:n.298+2T>C
NM_001017402.2:c.298+2T>C NP_001017402.1:n.298+2T>C
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