Canonical Allele Identifier: CA295682

Gene: LAMA4

Linked Data

• ClinVar Variation Id: 178049
• ClinVar RCV Id: RCV000154734 ; RCV000767119 ; RCV001087342 ; RCV002345501 ; RCV003945218
• dbSNP Id: rs145897390
• ExAC: 6:112430768 G / A
• gnomAD v2: 6-112430768-G-A
• gnomAD v3: 6-112109565-G-A
• gnomAD v4: 6-112109565-G-A
• COSMIC: COSM3857665
• MyVariant Identifiers: chr6:g.112430768G>A (hg19) ; chr6:g.112109565G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112109565G>A , CM000668.2:g.112109565G>A	GRCh38
NC_000006.11:g.112430768G>A , CM000668.1:g.112430768G>A	GRCh37
NC_000006.10:g.112537461G>A	NCBI36
NG_008209.1:g.150061C>T , LRG_433:g.150061C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000230538.12:c.5344C>T MANE Select	ENSP00000230538.7:p.Arg1782Cys
ENST00000389463.9:c.5323C>T	ENSP00000374114.4:p.Arg1775Cys
ENST00000651529.1:c.1362C>T
ENST00000651860.1:c.3067C>T	ENSP00000498842.1:p.Arg1023Cys
ENST00000230538.11:c.5344C>T	ENSP00000230538.7:p.Arg1782Cys
ENST00000389463.8:c.5323C>T	ENSP00000374114.4:p.Arg1775Cys
ENST00000424408.6:c.5323C>T	ENSP00000416470.2:p.Arg1775Cys
ENST00000522006.5:c.5323C>T	ENSP00000429488.1:p.Arg1775Cys
NM_001105206.2:c.5344C>T	NP_001098676.2:p.Arg1782Cys
NM_001105207.2:c.5323C>T	NP_001098677.2:p.Arg1775Cys
NM_002290.4:c.5323C>T	NP_002281.3:p.Arg1775Cys
XM_005266983.3:c.5344C>T	XP_005267040.2:p.Arg1782Cys
XM_005266984.3:c.5344C>T	XP_005267041.2:p.Arg1782Cys
XM_005266983.4:c.5344C>T	XP_005267040.2:p.Arg1782Cys
XM_005266984.4:c.5344C>T	XP_005267041.2:p.Arg1782Cys
XM_017010854.2:c.5323C>T	XP_016866343.1:p.Arg1775Cys
XR_001743406.2:n.5481C>T
XR_001743407.2:n.5460C>T
NM_001105206.3:c.5344C>T MANE Select	NP_001098676.2:p.Arg1782Cys
NM_001105207.3:c.5323C>T	NP_001098677.2:p.Arg1775Cys
NM_002290.5:c.5323C>T	NP_002281.3:p.Arg1775Cys