Canonical Allele Identifier: CA282401

Gene: LAMA4

Linked Data

• ClinVar Variation Id: 44405
• ClinVar RCV Id: RCV000037393 ; RCV000601243
• dbSNP Id: rs3734290
• ExAC: 6:112435264 T / G
• gnomAD v2: 6-112435264-T-G
• gnomAD v3: 6-112114061-T-G
• gnomAD v4: 6-112114061-T-G
• MyVariant Identifiers: chr6:g.112435264T>G (hg19) ; chr6:g.112114061T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112114061T>G , CM000668.2:g.112114061T>G	GRCh38
NC_000006.11:g.112435264T>G , CM000668.1:g.112435264T>G	GRCh37
NC_000006.10:g.112541957T>G	NCBI36
NG_008209.1:g.145565A>C , LRG_433:g.145565A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230538.12:c.5326+15A>C MANE Select	ENSP00000230538.7:n.5326+15A>C
ENST00000389463.9:c.5305+15A>C	ENSP00000374114.4:n.5305+15A>C
ENST00000651529.1:c.1344+15A>C
ENST00000651860.1:c.3049+15A>C	ENSP00000498842.1:n.3049+15A>C
ENST00000230538.11:c.5326+15A>C	ENSP00000230538.7:n.5326+15A>C
ENST00000389463.8:c.5305+15A>C	ENSP00000374114.4:n.5305+15A>C
ENST00000424408.6:c.5305+15A>C	ENSP00000416470.2:n.5305+15A>C
ENST00000522006.5:c.5305+15A>C	ENSP00000429488.1:n.5305+15A>C
NM_001105206.2:c.5326+15A>C	NP_001098676.2:n.5326+15A>C
NM_001105207.2:c.5305+15A>C	NP_001098677.2:n.5305+15A>C
NM_002290.4:c.5305+15A>C	NP_002281.3:n.5305+15A>C
XM_005266983.3:c.5326+15A>C	XP_005267040.2:n.5326+15A>C
XM_005266984.3:c.5326+15A>C	XP_005267041.2:n.5326+15A>C
XM_005266983.4:c.5326+15A>C	XP_005267040.2:n.5326+15A>C
XM_005266984.4:c.5326+15A>C	XP_005267041.2:n.5326+15A>C
XM_017010854.2:c.5305+15A>C	XP_016866343.1:n.5305+15A>C
XR_001743406.2:n.5463+15A>C
XR_001743407.2:n.5442+15A>C
NM_001105206.3:c.5326+15A>C MANE Select	NP_001098676.2:n.5326+15A>C
NM_001105207.3:c.5305+15A>C	NP_001098677.2:n.5305+15A>C
NM_002290.5:c.5305+15A>C	NP_002281.3:n.5305+15A>C