Canonical Allele Identifier: CA069479
Gene: LAMA4 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.112154945C>T , CM000668.2:g.112154945C>T GRCh38
NC_000006.11:g.112476147C>T , CM000668.1:g.112476147C>T GRCh37
NC_000006.10:g.112582840C>T NCBI36
NG_008209.1:g.104682G>A , LRG_433:g.104682G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230538.12:c.1962G>A MANE Select ENSP00000230538.7:p.Ala654=
ENST00000389463.9:c.1941G>A ENSP00000374114.4:p.Ala647=
ENST00000230538.11:c.1962G>A ENSP00000230538.7:p.Ala654=
ENST00000389463.8:c.1941G>A ENSP00000374114.4:p.Ala647=
ENST00000424408.6:c.1941G>A ENSP00000416470.2:p.Ala647=
ENST00000522006.5:c.1941G>A ENSP00000429488.1:p.Ala647=
ENST00000523765.1:c.299G>A
NM_001105206.2:c.1962G>A NP_001098676.2:p.Ala654=
NM_001105207.2:c.1941G>A NP_001098677.2:p.Ala647=
NM_002290.4:c.1941G>A NP_002281.3:p.Ala647=
XM_005266983.3:c.1962G>A XP_005267040.2:p.Ala654=
XM_005266984.3:c.1962G>A XP_005267041.2:p.Ala654=
XM_011535821.1:c.1962G>A XP_011534123.1:p.Ala654=
XM_005266983.4:c.1962G>A XP_005267040.2:p.Ala654=
XM_005266984.4:c.1962G>A XP_005267041.2:p.Ala654=
XM_017010854.2:c.1941G>A XP_016866343.1:p.Ala647=
XR_001743406.2:n.2233G>A
XR_001743407.2:n.2212G>A
XR_001744299.1:n.429-375C>T
NM_001105206.3:c.1962G>A MANE Select NP_001098676.2:p.Ala654=
NM_001105207.3:c.1941G>A NP_001098677.2:p.Ala647=
NM_002290.5:c.1941G>A NP_002281.3:p.Ala647=