Canonical Allele Identifier: CA282368

Gene: LAMA4

Linked Data

• ClinVar Variation Id: 44366
• ClinVar RCV Id: RCV000037354 ; RCV000246758 ; RCV000472840 ; RCV000853003
• dbSNP Id: rs35605307
• ExAC: 6:112462563 T / C
• gnomAD v2: 6-112462563-T-C
• gnomAD v3: 6-112141361-T-C
• gnomAD v4: 6-112141361-T-C
• MyVariant Identifiers: chr6:g.112462563T>C (hg19) ; chr6:g.112141361T>C (hg38)
• PubMed: PMID:24503780

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112141361T>C , CM000668.2:g.112141361T>C	GRCh38
NC_000006.11:g.112462563T>C , CM000668.1:g.112462563T>C	GRCh37
NC_000006.10:g.112569256T>C	NCBI36
NG_008209.1:g.118266A>G , LRG_433:g.118266A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000230538.12:c.2810A>G MANE Select	ENSP00000230538.7:p.Glu937Gly
ENST00000389463.9:c.2789A>G	ENSP00000374114.4:p.Glu930Gly
ENST00000651860.1:c.680A>G	ENSP00000498842.1:p.Glu227Gly
ENST00000230538.11:c.2810A>G	ENSP00000230538.7:p.Glu937Gly
ENST00000389463.8:c.2789A>G	ENSP00000374114.4:p.Glu930Gly
ENST00000424408.6:c.2789A>G	ENSP00000416470.2:p.Glu930Gly
ENST00000522006.5:c.2789A>G	ENSP00000429488.1:p.Glu930Gly
NM_001105206.2:c.2810A>G	NP_001098676.2:p.Glu937Gly
NM_001105207.2:c.2789A>G	NP_001098677.2:p.Glu930Gly
NM_002290.4:c.2789A>G	NP_002281.3:p.Glu930Gly
XM_005266983.3:c.2810A>G	XP_005267040.2:p.Glu937Gly
XM_005266984.3:c.2810A>G	XP_005267041.2:p.Glu937Gly
XM_011535821.1:c.2810A>G	XP_011534123.1:p.Glu937Gly
XM_005266983.4:c.2810A>G	XP_005267040.2:p.Glu937Gly
XM_005266984.4:c.2810A>G	XP_005267041.2:p.Glu937Gly
XM_017010854.2:c.2789A>G	XP_016866343.1:p.Glu930Gly
XR_001743406.2:n.3081A>G
XR_001743407.2:n.3060A>G
XR_001744299.1:n.429-13959T>C
NM_001105206.3:c.2810A>G MANE Select	NP_001098676.2:p.Glu937Gly
NM_001105207.3:c.2789A>G	NP_001098677.2:p.Glu930Gly
NM_002290.5:c.2789A>G	NP_002281.3:p.Glu930Gly