Canonical Allele Identifier: CA365365002
Gene: LAMA4 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.112114743A>G , CM000668.2:g.112114743A>G GRCh38
NC_000006.11:g.112435946A>G , CM000668.1:g.112435946A>G GRCh37
NC_000006.10:g.112542639A>G NCBI36
NG_008209.1:g.144883T>C , LRG_433:g.144883T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230538.12:c.5126T>C MANE Select ENSP00000230538.7:p.Val1709Ala
ENST00000389463.9:c.5105T>C ENSP00000374114.4:p.Val1702Ala
ENST00000651529.1:c.1144T>C
ENST00000651860.1:c.2849T>C ENSP00000498842.1:p.Val950Ala
ENST00000230538.11:c.5126T>C ENSP00000230538.7:p.Val1709Ala
ENST00000389463.8:c.5105T>C ENSP00000374114.4:p.Val1702Ala
ENST00000424408.6:c.5105T>C ENSP00000416470.2:p.Val1702Ala
ENST00000522006.5:c.5105T>C ENSP00000429488.1:p.Val1702Ala
NM_001105206.2:c.5126T>C NP_001098676.2:p.Val1709Ala
NM_001105207.2:c.5105T>C NP_001098677.2:p.Val1702Ala
NM_002290.4:c.5105T>C NP_002281.3:p.Val1702Ala
XM_005266983.3:c.5126T>C XP_005267040.2:p.Val1709Ala
XM_005266984.3:c.5126T>C XP_005267041.2:p.Val1709Ala
XM_005266983.4:c.5126T>C XP_005267040.2:p.Val1709Ala
XM_005266984.4:c.5126T>C XP_005267041.2:p.Val1709Ala
XM_017010854.2:c.5105T>C XP_016866343.1:p.Val1702Ala
XR_001743406.2:n.5263T>C
XR_001743407.2:n.5242T>C
NM_001105206.3:c.5126T>C MANE Select NP_001098676.2:p.Val1709Ala
NM_001105207.3:c.5105T>C NP_001098677.2:p.Val1702Ala
NM_002290.5:c.5105T>C NP_002281.3:p.Val1702Ala