Canonical Allele Identifier: CA8916562

Gene: LAMA3

Linked Data

• ClinVar Variation Id: 2911086
• ClinVar RCV Id: RCV003737438
• dbSNP Id: rs777962713
• ExAC: 18:21489275 C / T
• gnomAD v2: 18-21489275-C-T
• gnomAD v3: 18-23909311-C-T
• gnomAD v4: 18-23909311-C-T
• MyVariant Identifiers: chr18:g.21489275C>T (hg19) ; chr18:g.23909311C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23909311C>T , CM000680.2:g.23909311C>T	GRCh38
NC_000018.9:g.21489275C>T , CM000680.1:g.21489275C>T	GRCh37
NC_000018.8:g.19743273C>T	NCBI36
NG_007853.2:g.224714C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.2331+16C>T MANE Plus Clinical	ENSP00000269217.5:n.2331+16C>T
ENST00000313654.14:c.7158+16C>T MANE Select	ENSP00000324532.8:n.7158+16C>T
ENST00000649721.1:c.3753+16C>T	ENSP00000497885.1:n.3753+16C>T
ENST00000269217.10:c.2331+16C>T	ENSP00000269217.5:n.2331+16C>T
ENST00000313654.13:c.7158+16C>T	ENSP00000324532.8:n.7158+16C>T
ENST00000399516.7:c.6990+16C>T	ENSP00000382432.2:n.6990+16C>T
ENST00000586751.5:c.1936+16C>T
ENST00000587184.5:c.2163+16C>T	ENSP00000466557.1:n.2163+16C>T
ENST00000588770.5:n.1736+16C>T
NM_000227.4:c.2331+16C>T	NP_000218.3:n.2331+16C>T
NM_001127717.2:c.6990+16C>T	NP_001121189.2:n.6990+16C>T
NM_001127718.2:c.2163+16C>T	NP_001121190.2:n.2163+16C>T
NM_198129.2:c.7158+16C>T	NP_937762.2:n.7158+16C>T
XM_011525978.1:c.7185+16C>T	XP_011524280.1:n.7185+16C>T
XM_011525979.1:c.7176+16C>T	XP_011524281.1:n.7176+16C>T
XM_011525980.1:c.7167+16C>T	XP_011524282.1:n.7167+16C>T
XM_011525981.1:c.7053+16C>T	XP_011524283.1:n.7053+16C>T
XM_011525982.1:c.6888+16C>T	XP_011524284.1:n.6888+16C>T
XM_011525978.2:c.7185+16C>T	XP_011524280.1:n.7185+16C>T
XM_011525979.2:c.7176+16C>T	XP_011524281.1:n.7176+16C>T
XM_011525980.2:c.7167+16C>T	XP_011524282.1:n.7167+16C>T
XM_011525981.2:c.7053+16C>T	XP_011524283.1:n.7053+16C>T
XM_011525982.2:c.6888+16C>T	XP_011524284.1:n.6888+16C>T
XM_017025743.1:c.5037+16C>T	XP_016881232.1:n.5037+16C>T
XM_017025744.1:c.2727+16C>T	XP_016881233.1:n.2727+16C>T
XR_001753199.1:n.7426+16C>T
NM_000227.5:c.2331+16C>T	NP_000218.3:n.2331+16C>T
NM_001127717.3:c.6990+16C>T	NP_001121189.2:n.6990+16C>T
NM_001127718.3:c.2163+16C>T	NP_001121190.2:n.2163+16C>T
NM_198129.3:c.7158+16C>T	NP_937762.2:n.7158+16C>T
NM_000227.6:c.2331+16C>T MANE Plus Clinical	NP_000218.3:n.2331+16C>T
NM_001127717.4:c.6990+16C>T	NP_001121189.2:n.6990+16C>T
NM_001127718.4:c.2163+16C>T	NP_001121190.2:n.2163+16C>T
NM_198129.4:c.7158+16C>T MANE Select	NP_937762.2:n.7158+16C>T