Canonical Allele Identifier: CA244672

Gene: LAMA4

Linked Data

• ClinVar Variation Id: 196891
• ClinVar RCV Id: RCV000223049 ; RCV000249058 ; RCV000724815 ; RCV000557106 ; RCV003895196
• dbSNP Id: rs150069819
• ExAC: 6:112440502 G / T
• gnomAD v2: 6-112440502-G-T
• gnomAD v3: 6-112119299-G-T
• gnomAD v4: 6-112119299-G-T
• MyVariant Identifiers: chr6:g.112440502G>T (hg19) ; chr6:g.112119299G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112119299G>T , CM000668.2:g.112119299G>T	GRCh38
NC_000006.11:g.112440502G>T , CM000668.1:g.112440502G>T	GRCh37
NC_000006.10:g.112547195G>T	NCBI36
NG_008209.1:g.140327C>A , LRG_433:g.140327C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230538.12:c.4678C>A MANE Select	ENSP00000230538.7:p.Arg1560=
ENST00000389463.9:c.4657C>A	ENSP00000374114.4:p.Arg1553=
ENST00000651529.1:c.696C>A
ENST00000651860.1:c.2401C>A	ENSP00000498842.1:p.Arg801=
ENST00000230538.11:c.4678C>A	ENSP00000230538.7:p.Arg1560=
ENST00000389463.8:c.4657C>A	ENSP00000374114.4:p.Arg1553=
ENST00000424408.6:c.4657C>A	ENSP00000416470.2:p.Arg1553=
ENST00000522006.5:c.4657C>A	ENSP00000429488.1:p.Arg1553=
NM_001105206.2:c.4678C>A	NP_001098676.2:p.Arg1560=
NM_001105207.2:c.4657C>A	NP_001098677.2:p.Arg1553=
NM_002290.4:c.4657C>A	NP_002281.3:p.Arg1553=
XM_005266983.3:c.4678C>A	XP_005267040.2:p.Arg1560=
XM_005266984.3:c.4678C>A	XP_005267041.2:p.Arg1560=
XM_005266983.4:c.4678C>A	XP_005267040.2:p.Arg1560=
XM_005266984.4:c.4678C>A	XP_005267041.2:p.Arg1560=
XM_017010854.2:c.4657C>A	XP_016866343.1:p.Arg1553=
XR_001743406.2:n.4815C>A
XR_001743407.2:n.4794C>A
XR_001744299.1:n.428+2872G>T
NM_001105206.3:c.4678C>A MANE Select	NP_001098676.2:p.Arg1560=
NM_001105207.3:c.4657C>A	NP_001098677.2:p.Arg1553=
NM_002290.5:c.4657C>A	NP_002281.3:p.Arg1553=