Canonical Allele Identifier: CA1374839

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 2215370
• ClinVar RCV Id: RCV002682314
• dbSNP Id: rs376506766
• ExAC: 1:209788644 C / T
• gnomAD v2: 1-209788644-C-T
• gnomAD v3: 1-209615299-C-T
• gnomAD v4: 1-209615299-C-T
• COSMIC: COSM1929054
• MyVariant Identifiers: chr1:g.209788644C>T (hg19) ; chr1:g.209615299C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209615299C>T , CM000663.2:g.209615299C>T	GRCh38
NC_000001.10:g.209788644C>T , CM000663.1:g.209788644C>T	GRCh37
NC_000001.9:g.207855267C>T	NCBI36
NG_007116.1:g.42177G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.3491G>A MANE Select	ENSP00000348384.3:p.Arg1164His
ENST00000356082.8:c.3491G>A	ENSP00000348384.3:p.Arg1164His
ENST00000367030.7:c.3491G>A	ENSP00000355997.3:p.Arg1164His
ENST00000391911.5:c.3491G>A	ENSP00000375778.1:p.Arg1164His
NM_000228.2:c.3491G>A	NP_000219.2:p.Arg1164His
NM_001017402.1:c.3491G>A	NP_001017402.1:p.Arg1164His
NM_001127641.1:c.3491G>A	NP_001121113.1:p.Arg1164His
XM_005273124.3:c.3491G>A	XP_005273181.1:p.Arg1164His
XM_005273124.4:c.3491G>A	XP_005273181.1:p.Arg1164His
XM_017001272.2:c.3299G>A	XP_016856761.1:p.Arg1100His
NM_000228.3:c.3491G>A MANE Select	NP_000219.2:p.Arg1164His
NM_001017402.2:c.3491G>A	NP_001017402.1:p.Arg1164His