Canonical Allele Identifier: CA297088499

Gene: LAMA3

Linked Data

• ClinVar Variation Id: 1261444
• ClinVar RCV Id: RCV001674022
• dbSNP Id: rs73398344
• gnomAD v2: 18-21426031-G-C
• gnomAD v3: 18-23846067-G-C
• gnomAD v4: 18-23846067-G-C
• MyVariant Identifiers: chr18:g.21426031G>C (hg19) ; chr18:g.23846067G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23846067G>C , CM000680.2:g.23846067G>C	GRCh38
NC_000018.9:g.21426031G>C , CM000680.1:g.21426031G>C	GRCh37
NC_000018.8:g.19680029G>C	NCBI36
NG_007853.2:g.161470G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313654.14:c.3720-230G>C MANE Select	ENSP00000324532.8:n.3720-230G>C
ENST00000649721.1:c.612-230G>C	ENSP00000497885.1:n.612-230G>C
ENST00000313654.13:c.3720-230G>C	ENSP00000324532.8:n.3720-230G>C
ENST00000399516.7:c.3720-230G>C	ENSP00000382432.2:n.3720-230G>C
NM_001127717.2:c.3720-230G>C	NP_001121189.2:n.3720-230G>C
NM_198129.2:c.3720-230G>C	NP_937762.2:n.3720-230G>C
XM_011525978.1:c.3747-230G>C	XP_011524280.1:n.3747-230G>C
XM_011525979.1:c.3738-230G>C	XP_011524281.1:n.3738-230G>C
XM_011525980.1:c.3729-230G>C	XP_011524282.1:n.3729-230G>C
XM_011525981.1:c.3615-230G>C	XP_011524283.1:n.3615-230G>C
XM_011525982.1:c.3747-230G>C	XP_011524284.1:n.3747-230G>C
XM_011525978.2:c.3747-230G>C	XP_011524280.1:n.3747-230G>C
XM_011525979.2:c.3738-230G>C	XP_011524281.1:n.3738-230G>C
XM_011525980.2:c.3729-230G>C	XP_011524282.1:n.3729-230G>C
XM_011525981.2:c.3615-230G>C	XP_011524283.1:n.3615-230G>C
XM_011525982.2:c.3747-230G>C	XP_011524284.1:n.3747-230G>C
XM_017025743.1:c.1599-230G>C	XP_016881232.1:n.1599-230G>C
XM_017025744.1:c.-905-230G>C	XP_016881233.1:n.-905-230G>C
XR_001753199.1:n.3988-230G>C
NM_001127717.3:c.3720-230G>C	NP_001121189.2:n.3720-230G>C
NM_198129.3:c.3720-230G>C	NP_937762.2:n.3720-230G>C
NM_001127717.4:c.3720-230G>C	NP_001121189.2:n.3720-230G>C
NM_198129.4:c.3720-230G>C MANE Select	NP_937762.2:n.3720-230G>C