Canonical Allele Identifier: CA1375086

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 295078
• ClinVar RCV Id: RCV000318642 ; RCV002519479 ; RCV003391057
• dbSNP Id: rs567776263
• ExAC: 1:209791875 T / C
• gnomAD v2: 1-209791875-T-C
• gnomAD v3: 1-209618530-T-C
• gnomAD v4: 1-209618530-T-C
• MyVariant Identifiers: chr1:g.209791875T>C (hg19) ; chr1:g.209618530T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209618530T>C , CM000663.2:g.209618530T>C	GRCh38
NC_000001.10:g.209791875T>C , CM000663.1:g.209791875T>C	GRCh37
NC_000001.9:g.207858498T>C	NCBI36
NG_007116.1:g.38946A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.2831A>G MANE Select	ENSP00000348384.3:p.Asn944Ser
ENST00000356082.8:c.2831A>G	ENSP00000348384.3:p.Asn944Ser
ENST00000367030.7:c.2831A>G	ENSP00000355997.3:p.Asn944Ser
ENST00000391911.5:c.2831A>G	ENSP00000375778.1:p.Asn944Ser
ENST00000455193.1:c.38A>G	ENSP00000398683.1:p.Asn13Ser
NM_000228.2:c.2831A>G	NP_000219.2:p.Asn944Ser
NM_001017402.1:c.2831A>G	NP_001017402.1:p.Asn944Ser
NM_001127641.1:c.2831A>G	NP_001121113.1:p.Asn944Ser
XM_005273124.3:c.2831A>G	XP_005273181.1:p.Asn944Ser
XM_005273124.4:c.2831A>G	XP_005273181.1:p.Asn944Ser
XM_017001272.2:c.2639A>G	XP_016856761.1:p.Asn880Ser
NM_000228.3:c.2831A>G MANE Select	NP_000219.2:p.Asn944Ser
NM_001017402.2:c.2831A>G	NP_001017402.1:p.Asn944Ser