Canonical Allele Identifier: CA2580074800

Gene: LAMA4

Linked Data

• ClinVar Variation Id: 2129031
• ClinVar RCV Id: RCV003040339

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112114647C>A , CM000668.2:g.112114647C>A	GRCh38
NC_000006.11:g.112435850C>A , CM000668.1:g.112435850C>A	GRCh37
NC_000006.10:g.112542543C>A	NCBI36
NG_008209.1:g.144979G>T , LRG_433:g.144979G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230538.12:c.5206+16G>T MANE Select	ENSP00000230538.7:n.5206+16G>T
ENST00000389463.9:c.5185+16G>T	ENSP00000374114.4:n.5185+16G>T
ENST00000651529.1:c.1224+16G>T
ENST00000651860.1:c.2929+16G>T	ENSP00000498842.1:n.2929+16G>T
ENST00000230538.11:c.5206+16G>T	ENSP00000230538.7:n.5206+16G>T
ENST00000389463.8:c.5185+16G>T	ENSP00000374114.4:n.5185+16G>T
ENST00000424408.6:c.5185+16G>T	ENSP00000416470.2:n.5185+16G>T
ENST00000522006.5:c.5185+16G>T	ENSP00000429488.1:n.5185+16G>T
NM_001105206.2:c.5206+16G>T	NP_001098676.2:n.5206+16G>T
NM_001105207.2:c.5185+16G>T	NP_001098677.2:n.5185+16G>T
NM_002290.4:c.5185+16G>T	NP_002281.3:n.5185+16G>T
XM_005266983.3:c.5206+16G>T	XP_005267040.2:n.5206+16G>T
XM_005266984.3:c.5206+16G>T	XP_005267041.2:n.5206+16G>T
XM_005266983.4:c.5206+16G>T	XP_005267040.2:n.5206+16G>T
XM_005266984.4:c.5206+16G>T	XP_005267041.2:n.5206+16G>T
XM_017010854.2:c.5185+16G>T	XP_016866343.1:n.5185+16G>T
XR_001743406.2:n.5343+16G>T
XR_001743407.2:n.5322+16G>T
NM_001105206.3:c.5206+16G>T MANE Select	NP_001098676.2:n.5206+16G>T
NM_001105207.3:c.5185+16G>T	NP_001098677.2:n.5185+16G>T
NM_002290.5:c.5185+16G>T	NP_002281.3:n.5185+16G>T