Canonical Allele Identifier: CA16040690

Gene: LAMB3 MIR4260

Linked Data

• ClinVar Variation Id: 370879
• ClinVar RCV Id: RCV000410456
• dbSNP Id: rs1057516838
• MyVariant Identifiers: chr1:g.209796848A>G (hg19) ; chr1:g.209623503A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209623503A>G , CM000663.2:g.209623503A>G	GRCh38
NC_000001.10:g.209796848A>G , CM000663.1:g.209796848A>G	GRCh37
NC_000001.9:g.207863471A>G	NCBI36
NG_007116.1:g.33973T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.2358+2T>C (LAMB3) MANE Select	ENSP00000348384.3:n.2358+2T>C
ENST00000356082.8:c.2358+2T>C (LAMB3)	ENSP00000348384.3:n.2358+2T>C
ENST00000367030.7:c.2358+2T>C (LAMB3)	ENSP00000355997.3:n.2358+2T>C
ENST00000391911.5:c.2358+2T>C (LAMB3)	ENSP00000375778.1:n.2358+2T>C
NM_000228.2:c.2358+2T>C (LAMB3)	NP_000219.2:n.2358+2T>C
NM_001017402.1:c.2358+2T>C (LAMB3)	NP_001017402.1:n.2358+2T>C
NM_001127641.1:c.2358+2T>C (LAMB3)	NP_001121113.1:n.2358+2T>C
NR_036213.1:n.8T>C (MIR4260)
XM_005273124.3:c.2358+2T>C (LAMB3)	XP_005273181.1:n.2358+2T>C
XM_005273124.4:c.2358+2T>C (LAMB3)	XP_005273181.1:n.2358+2T>C
XM_017001272.2:c.2166+2T>C (LAMB3)	XP_016856761.1:n.2166+2T>C
NM_000228.3:c.2358+2T>C (LAMB3) MANE Select	NP_000219.2:n.2358+2T>C
NM_001017402.2:c.2358+2T>C (LAMB3)	NP_001017402.1:n.2358+2T>C