Canonical Allele Identifier: CA237257

Gene: LAMA4

Linked Data

• ClinVar Variation Id: 44373
• ClinVar RCV Id: RCV000037361 ; RCV000171974 ; RCV000618915 ; RCV000769196 ; RCV001088319 ; RCV001781353
• dbSNP Id: rs373650093
• ExAC: 6:112460429 C / T
• gnomAD v2: 6-112460429-C-T
• gnomAD v3: 6-112139227-C-T
• gnomAD v4: 6-112139227-C-T
• COSMIC: COSM1439882
• MyVariant Identifiers: chr6:g.112460429C>T (hg19) ; chr6:g.112139227C>T (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112139227C>T , CM000668.2:g.112139227C>T	GRCh38
NC_000006.11:g.112460429C>T , CM000668.1:g.112460429C>T	GRCh37
NC_000006.10:g.112567122C>T	NCBI36
NG_008209.1:g.120400G>A , LRG_433:g.120400G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000230538.12:c.3175G>A MANE Select	ENSP00000230538.7:p.Val1059Met
ENST00000389463.9:c.3154G>A	ENSP00000374114.4:p.Val1052Met
ENST00000651860.1:c.1045G>A	ENSP00000498842.1:p.Val349Met
ENST00000230538.11:c.3175G>A	ENSP00000230538.7:p.Val1059Met
ENST00000389463.8:c.3154G>A	ENSP00000374114.4:p.Val1052Met
ENST00000424408.6:c.3154G>A	ENSP00000416470.2:p.Val1052Met
ENST00000519245.1:n.50G>A
ENST00000522006.5:c.3154G>A	ENSP00000429488.1:p.Val1052Met
NM_001105206.2:c.3175G>A	NP_001098676.2:p.Val1059Met
NM_001105207.2:c.3154G>A	NP_001098677.2:p.Val1052Met
NM_002290.4:c.3154G>A	NP_002281.3:p.Val1052Met
XM_005266983.3:c.3175G>A	XP_005267040.2:p.Val1059Met
XM_005266984.3:c.3175G>A	XP_005267041.2:p.Val1059Met
XM_011535821.1:c.3175G>A	XP_011534123.1:p.Val1059Met
XM_005266983.4:c.3175G>A	XP_005267040.2:p.Val1059Met
XM_005266984.4:c.3175G>A	XP_005267041.2:p.Val1059Met
XM_017010854.2:c.3154G>A	XP_016866343.1:p.Val1052Met
XR_001743406.2:n.3446G>A
XR_001743407.2:n.3425G>A
XR_001744299.1:n.429-16093C>T
NM_001105206.3:c.3175G>A MANE Select	NP_001098676.2:p.Val1059Met
NM_001105207.3:c.3154G>A	NP_001098677.2:p.Val1052Met
NM_002290.5:c.3154G>A	NP_002281.3:p.Val1052Met