Canonical Allele Identifier: CA16040708
Gene: LAMB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 370673
ClinVar RCV Id: RCV000411435
dbSNP Id: rs1057516675
MyVariant Identifiers: chr1:g.209811251A>C (hg19) chr1:g.209637906A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209637906A>C , CM000663.2:g.209637906A>C GRCh38
NC_000001.10:g.209811251A>C , CM000663.1:g.209811251A>C GRCh37
NC_000001.9:g.207877874A>C NCBI36
NG_007116.1:g.19570T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356082.9:c.372+2T>G MANE Select ENSP00000348384.3:n.372+2T>G
ENST00000356082.8:c.372+2T>G ENSP00000348384.3:n.372+2T>G
ENST00000367030.7:c.372+2T>G ENSP00000355997.3:n.372+2T>G
ENST00000391911.5:c.372+2T>G ENSP00000375778.1:n.372+2T>G
ENST00000415782.1:c.372+2T>G ENSP00000388960.1:n.372+2T>G
NM_000228.2:c.372+2T>G NP_000219.2:n.372+2T>G
NM_001017402.1:c.372+2T>G NP_001017402.1:n.372+2T>G
NM_001127641.1:c.372+2T>G NP_001121113.1:n.372+2T>G
XM_005273124.3:c.372+2T>G XP_005273181.1:n.372+2T>G
XM_005273124.4:c.372+2T>G XP_005273181.1:n.372+2T>G
XM_017001272.2:c.372+2T>G XP_016856761.1:n.372+2T>G
NM_000228.3:c.372+2T>G MANE Select NP_000219.2:n.372+2T>G
NM_001017402.2:c.372+2T>G NP_001017402.1:n.372+2T>G
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