Canonical Allele Identifier: CA1375945

Gene: LAMB3

Linked Data

• dbSNP Id: rs776028142
• ExAC: 1:209807835 T / C
• gnomAD v2: 1-209807835-T-C
• gnomAD v4: 1-209634490-T-C
• MyVariant Identifiers: chr1:g.209807835T>C (hg19) ; chr1:g.209634490T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209634490T>C , CM000663.2:g.209634490T>C	GRCh38
NC_000001.10:g.209807835T>C , CM000663.1:g.209807835T>C	GRCh37
NC_000001.9:g.207874458T>C	NCBI36
NG_007116.1:g.22986A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.521A>G MANE Select	ENSP00000348384.3:p.Gln174Arg
ENST00000356082.8:c.521A>G	ENSP00000348384.3:p.Gln174Arg
ENST00000367030.7:c.521A>G	ENSP00000355997.3:p.Gln174Arg
ENST00000391911.5:c.521A>G	ENSP00000375778.1:p.Gln174Arg
ENST00000415782.1:c.521A>G	ENSP00000388960.1:p.Gln174Arg
NM_000228.2:c.521A>G	NP_000219.2:p.Gln174Arg
NM_001017402.1:c.521A>G	NP_001017402.1:p.Gln174Arg
NM_001127641.1:c.521A>G	NP_001121113.1:p.Gln174Arg
XM_005273124.3:c.521A>G	XP_005273181.1:p.Gln174Arg
XM_005273124.4:c.521A>G	XP_005273181.1:p.Gln174Arg
XM_017001272.2:c.373-1357A>G	XP_016856761.1:n.373-1357A>G
NM_000228.3:c.521A>G MANE Select	NP_000219.2:p.Gln174Arg
NM_001017402.2:c.521A>G	NP_001017402.1:p.Gln174Arg