Canonical Allele Identifier: CA1374841

Gene: LAMB3

Linked Data

• dbSNP Id: rs540971405
• ExAC: 1:209788645 G / C
• gnomAD v2: 1-209788645-G-C
• gnomAD v3: 1-209615300-G-C
• gnomAD v4: 1-209615300-G-C
• MyVariant Identifiers: chr1:g.209788645G>C (hg19) ; chr1:g.209615300G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209615300G>C , CM000663.2:g.209615300G>C	GRCh38
NC_000001.10:g.209788645G>C , CM000663.1:g.209788645G>C	GRCh37
NC_000001.9:g.207855268G>C	NCBI36
NG_007116.1:g.42176C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.3490C>G MANE Select	ENSP00000348384.3:p.Arg1164Gly
ENST00000356082.8:c.3490C>G	ENSP00000348384.3:p.Arg1164Gly
ENST00000367030.7:c.3490C>G	ENSP00000355997.3:p.Arg1164Gly
ENST00000391911.5:c.3490C>G	ENSP00000375778.1:p.Arg1164Gly
NM_000228.2:c.3490C>G	NP_000219.2:p.Arg1164Gly
NM_001017402.1:c.3490C>G	NP_001017402.1:p.Arg1164Gly
NM_001127641.1:c.3490C>G	NP_001121113.1:p.Arg1164Gly
XM_005273124.3:c.3490C>G	XP_005273181.1:p.Arg1164Gly
XM_005273124.4:c.3490C>G	XP_005273181.1:p.Arg1164Gly
XM_017001272.2:c.3298C>G	XP_016856761.1:p.Arg1100Gly
NM_000228.3:c.3490C>G MANE Select	NP_000219.2:p.Arg1164Gly
NM_001017402.2:c.3490C>G	NP_001017402.1:p.Arg1164Gly