Canonical Allele Identifier: CA3965509

Gene: LAMA4

Linked Data

• dbSNP Id: rs781923773
• ExAC: 6:112469384 A / G
• gnomAD v2: 6-112469384-A-G
• gnomAD v4: 6-112148182-A-G
• MyVariant Identifiers: chr6:g.112469384A>G (hg19) ; chr6:g.112148182A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112148182A>G , CM000668.2:g.112148182A>G	GRCh38
NC_000006.11:g.112469384A>G , CM000668.1:g.112469384A>G	GRCh37
NC_000006.10:g.112576077A>G	NCBI36
NG_008209.1:g.111445T>C , LRG_433:g.111445T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230538.12:c.2328T>C MANE Select	ENSP00000230538.7:p.Thr776=
ENST00000389463.9:c.2307T>C	ENSP00000374114.4:p.Thr769=
ENST00000651860.1:c.198T>C	ENSP00000498842.1:p.Thr66=
ENST00000230538.11:c.2328T>C	ENSP00000230538.7:p.Thr776=
ENST00000389463.8:c.2307T>C	ENSP00000374114.4:p.Thr769=
ENST00000424408.6:c.2307T>C	ENSP00000416470.2:p.Thr769=
ENST00000522006.5:c.2307T>C	ENSP00000429488.1:p.Thr769=
ENST00000523765.1:c.740T>C
NM_001105206.2:c.2328T>C	NP_001098676.2:p.Thr776=
NM_001105207.2:c.2307T>C	NP_001098677.2:p.Thr769=
NM_002290.4:c.2307T>C	NP_002281.3:p.Thr769=
XM_005266983.3:c.2328T>C	XP_005267040.2:p.Thr776=
XM_005266984.3:c.2328T>C	XP_005267041.2:p.Thr776=
XM_011535821.1:c.2328T>C	XP_011534123.1:p.Thr776=
XM_005266983.4:c.2328T>C	XP_005267040.2:p.Thr776=
XM_005266984.4:c.2328T>C	XP_005267041.2:p.Thr776=
XM_017010854.2:c.2307T>C	XP_016866343.1:p.Thr769=
XR_001743406.2:n.2599T>C
XR_001743407.2:n.2578T>C
XR_001744299.1:n.429-7138A>G
NM_001105206.3:c.2328T>C MANE Select	NP_001098676.2:p.Thr776=
NM_001105207.3:c.2307T>C	NP_001098677.2:p.Thr769=
NM_002290.5:c.2307T>C	NP_002281.3:p.Thr769=