Canonical Allele Identifier: CA1375459

Gene: LAMB3

Linked Data

• dbSNP Id: rs749625880
• ExAC: 1:209799174 A / G
• gnomAD v2: 1-209799174-A-G
• gnomAD v4: 1-209625829-A-G
• MyVariant Identifiers: chr1:g.209799174A>G (hg19) ; chr1:g.209625829A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209625829A>G , CM000663.2:g.209625829A>G	GRCh38
NC_000001.10:g.209799174A>G , CM000663.1:g.209799174A>G	GRCh37
NC_000001.9:g.207865797A>G	NCBI36
NG_007116.1:g.31647T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1795T>C MANE Select	ENSP00000348384.3:p.Phe599Leu
ENST00000356082.8:c.1795T>C	ENSP00000348384.3:p.Phe599Leu
ENST00000367030.7:c.1795T>C	ENSP00000355997.3:p.Phe599Leu
ENST00000391911.5:c.1795T>C	ENSP00000375778.1:p.Phe599Leu
NM_000228.2:c.1795T>C	NP_000219.2:p.Phe599Leu
NM_001017402.1:c.1795T>C	NP_001017402.1:p.Phe599Leu
NM_001127641.1:c.1795T>C	NP_001121113.1:p.Phe599Leu
XM_005273124.3:c.1795T>C	XP_005273181.1:p.Phe599Leu
XM_005273124.4:c.1795T>C	XP_005273181.1:p.Phe599Leu
XM_017001272.2:c.1603T>C	XP_016856761.1:p.Phe535Leu
NM_000228.3:c.1795T>C MANE Select	NP_000219.2:p.Phe599Leu
NM_001017402.2:c.1795T>C	NP_001017402.1:p.Phe599Leu