Canonical Allele Identifier: CA365383501

Gene: LAMA4

Linked Data

• ClinVar Variation Id: 518371
• ClinVar RCV Id: RCV000607294 ; RCV001701393 ; RCV002448911
• dbSNP Id: rs1554334959
• gnomAD v3: 6-112148205-A-G
• gnomAD v4: 6-112148205-A-G
• MyVariant Identifiers: chr6:g.112469407A>G (hg19) ; chr6:g.112148205A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112148205A>G , CM000668.2:g.112148205A>G	GRCh38
NC_000006.11:g.112469407A>G , CM000668.1:g.112469407A>G	GRCh37
NC_000006.10:g.112576100A>G	NCBI36
NG_008209.1:g.111422T>C , LRG_433:g.111422T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000230538.12:c.2305T>C MANE Select	ENSP00000230538.7:p.Phe769Leu
ENST00000389463.9:c.2284T>C	ENSP00000374114.4:p.Phe762Leu
ENST00000651860.1:c.175T>C	ENSP00000498842.1:p.Phe59Leu
ENST00000230538.11:c.2305T>C	ENSP00000230538.7:p.Phe769Leu
ENST00000389463.8:c.2284T>C	ENSP00000374114.4:p.Phe762Leu
ENST00000424408.6:c.2284T>C	ENSP00000416470.2:p.Phe762Leu
ENST00000522006.5:c.2284T>C	ENSP00000429488.1:p.Phe762Leu
ENST00000523765.1:c.717T>C
NM_001105206.2:c.2305T>C	NP_001098676.2:p.Phe769Leu
NM_001105207.2:c.2284T>C	NP_001098677.2:p.Phe762Leu
NM_002290.4:c.2284T>C	NP_002281.3:p.Phe762Leu
XM_005266983.3:c.2305T>C	XP_005267040.2:p.Phe769Leu
XM_005266984.3:c.2305T>C	XP_005267041.2:p.Phe769Leu
XM_011535821.1:c.2305T>C	XP_011534123.1:p.Phe769Leu
XM_005266983.4:c.2305T>C	XP_005267040.2:p.Phe769Leu
XM_005266984.4:c.2305T>C	XP_005267041.2:p.Phe769Leu
XM_017010854.2:c.2284T>C	XP_016866343.1:p.Phe762Leu
XR_001743406.2:n.2576T>C
XR_001743407.2:n.2555T>C
XR_001744299.1:n.429-7115A>G
NM_001105206.3:c.2305T>C MANE Select	NP_001098676.2:p.Phe769Leu
NM_001105207.3:c.2284T>C	NP_001098677.2:p.Phe762Leu
NM_002290.5:c.2284T>C	NP_002281.3:p.Phe762Leu