Canonical Allele Identifier: CA765678862

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs1473622137
• gnomAD v3: 2-227312096-C-G
• gnomAD v4: 2-227312096-C-G
• MyVariant Identifiers: chr2:g.228176812C>G (hg19) ; chr2:g.227312096C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312096C>G , CM000664.2:g.227312096C>G	GRCh38
NC_000002.11:g.228176812C>G , CM000664.1:g.228176812C>G	GRCh37
NC_000002.10:g.227885056C>G	NCBI36
NG_011591.1:g.152532C>G , LRG_230:g.152532C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2497C>G (COL4A3)
ENST00000682257.1:n.461C>G (COL4A3)
ENST00000682970.1:n.537C>G (COL4A3)
ENST00000683077.1:n.2178C>G (COL4A3)
ENST00000684413.1:n.2806C>G (COL4A3)
ENST00000684724.1:n.660C>G (COL4A3)
ENST00000396578.8:c.*226C>G (COL4A3) MANE Select	ENSP00000379823.3:n.*226C>G
ENST00000396578.7:c.*226C>G (COL4A3)	ENSP00000379823.3:n.*226C>G
NM_000091.4:c.*226C>G , LRG_230t1:c.*226C>G (COL4A3)	NP_000082.2:n.*226C>G
NR_102371.1:n.48-6441G>C (MFF-DT)
XM_005246276.2:c.*152C>G (COL4A3)	XP_005246333.1:n.*152C>G
XM_005246277.2:c.*226C>G (COL4A3)	XP_005246334.1:n.*226C>G
XM_011510556.1:c.*226C>G (COL4A3)	XP_011508858.1:n.*226C>G
XR_241280.2:n.5199C>G (COL4A3)
XM_005246277.3:c.*226C>G (COL4A3)	XP_005246334.1:n.*226C>G
XM_011510556.2:c.*226C>G (COL4A3)	XP_011508858.1:n.*226C>G
XR_241280.3:n.5199C>G (COL4A3)
NM_000091.5:c.*226C>G (COL4A3) MANE Select	NP_000082.2:n.*226C>G