Canonical Allele Identifier: CA3966336

Gene: LAMA4 LAMA4-AS1

Linked Data

• ClinVar Variation Id: 492988
• ClinVar RCV Id: RCV000584772
• dbSNP Id: rs572035776
• ExAC: 6:112575248 G / C
• gnomAD v2: 6-112575248-G-C
• gnomAD v3: 6-112254046-G-C
• gnomAD v4: 6-112254046-G-C
• MyVariant Identifiers: chr6:g.112575248G>C (hg19) ; chr6:g.112254046G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112254046G>C , CM000668.2:g.112254046G>C	GRCh38
NC_000006.11:g.112575248G>C , CM000668.1:g.112575248G>C	GRCh37
NC_000006.10:g.112681941G>C	NCBI36
NG_008209.1:g.5581C>G , LRG_433:g.5581C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000230538.12:c.105C>G (LAMA4) MANE Select	ENSP00000230538.7:p.Asp35Glu
ENST00000368638.5:c.105C>G (LAMA4)	ENSP00000357627.4:p.Asp35Glu
ENST00000389463.9:c.105C>G (LAMA4)	ENSP00000374114.4:p.Asp35Glu
ENST00000230538.11:c.105C>G (LAMA4)	ENSP00000230538.7:p.Asp35Glu
ENST00000243219.7:c.105C>G (LAMA4)	ENSP00000243219.3:p.Asp35Glu
ENST00000368638.4:c.105C>G (LAMA4)	ENSP00000357627.4:p.Asp35Glu
ENST00000389463.8:c.105C>G (LAMA4)	ENSP00000374114.4:p.Asp35Glu
ENST00000424408.6:c.105C>G (LAMA4)	ENSP00000416470.2:p.Asp35Glu
ENST00000431543.6:c.105C>G (LAMA4)	ENSP00000412136.2:p.Asp35Glu
ENST00000453937.2:c.105C>G (LAMA4)	ENSP00000398226.2:p.Asp35Glu
ENST00000455073.1:c.105C>G (LAMA4)	ENSP00000408604.1:p.Asp35Glu
ENST00000519932.5:c.105C>G (LAMA4)	ENSP00000428583.1:p.Asp35Glu
ENST00000521398.5:c.105C>G (LAMA4)	ENSP00000430336.1:p.Asp35Glu
ENST00000521690.1:c.105C>G (LAMA4)	ENSP00000430415.1:p.Asp35Glu
ENST00000522006.5:c.105C>G (LAMA4)	ENSP00000429488.1:p.Asp35Glu
ENST00000585504.5:n.111+17130G>C
ENST00000585611.5:c.-732+17130G>C	ENSP00000486440.1:n.-732+17130G>C
ENST00000587816.2:c.-398+17130G>C	ENSP00000487146.1:n.-398+17130G>C
ENST00000590673.5:c.-351+17130G>C	ENSP00000486934.1:n.-351+17130G>C
NM_001105206.2:c.105C>G (LAMA4)	NP_001098676.2:p.Asp35Glu
NM_001105207.2:c.105C>G (LAMA4)	NP_001098677.2:p.Asp35Glu
NM_001105208.2:c.105C>G (LAMA4)	NP_001098678.1:p.Asp35Glu
NM_001105209.2:c.105C>G (LAMA4)	NP_001098679.1:p.Asp35Glu
NM_002290.4:c.105C>G (LAMA4)	NP_002281.3:p.Asp35Glu
NR_121193.1:n.181+17130G>C (LAMA4-AS1)
XM_005266983.3:c.105C>G (LAMA4)	XP_005267040.2:p.Asp35Glu
XM_005266984.3:c.105C>G (LAMA4)	XP_005267041.2:p.Asp35Glu
XM_011535821.1:c.105C>G (LAMA4)	XP_011534123.1:p.Asp35Glu
XM_005266983.4:c.105C>G (LAMA4)	XP_005267040.2:p.Asp35Glu
XM_005266984.4:c.105C>G (LAMA4)	XP_005267041.2:p.Asp35Glu
XM_017010854.2:c.105C>G (LAMA4)	XP_016866343.1:p.Asp35Glu
XR_001743406.2:n.376C>G (LAMA4)
XR_001743407.2:n.376C>G (LAMA4)
NM_001105206.3:c.105C>G (LAMA4) MANE Select	NP_001098676.2:p.Asp35Glu
NM_001105207.3:c.105C>G (LAMA4)	NP_001098677.2:p.Asp35Glu
NM_002290.5:c.105C>G (LAMA4)	NP_002281.3:p.Asp35Glu
NM_001105208.3:c.105C>G (LAMA4)	NP_001098678.1:p.Asp35Glu
NM_001105209.3:c.105C>G (LAMA4)	NP_001098679.1:p.Asp35Glu