Canonical Allele Identifier: CA350865508

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs1436811964
• gnomAD v3: 2-227309221-G-A
• gnomAD v4: 2-227309221-G-A
• MyVariant Identifiers: chr2:g.228173937G>A (hg19) ; chr2:g.227309221G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309221G>A , CM000664.2:g.227309221G>A	GRCh38
NC_000002.11:g.228173937G>A , CM000664.1:g.228173937G>A	GRCh37
NC_000002.10:g.227882181G>A	NCBI36
NG_011591.1:g.149657G>A , LRG_230:g.149657G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1916G>A (COL4A3)
ENST00000682257.1:n.53G>A (COL4A3)
ENST00000683077.1:n.140G>A (COL4A3)
ENST00000684413.1:n.2225G>A (COL4A3)
ENST00000684724.1:n.79G>A (COL4A3)
ENST00000396578.8:c.4658G>A (COL4A3) MANE Select	ENSP00000379823.3:p.Gly1553Asp
ENST00000469504.2:c.451G>A (COL4A3)	ENSP00000493493.1:p.Val151Ile
ENST00000643388.1:c.344G>A (COL4A3)	ENSP00000495177.1:p.Gly115Asp
ENST00000396578.7:c.4658G>A (COL4A3)	ENSP00000379823.3:p.Gly1553Asp
ENST00000469504.1:n.166G>A (COL4A3)
NM_000091.4:c.4658G>A , LRG_230t1:c.4658G>A (COL4A3)	NP_000082.2:p.Gly1553Asp
NR_102371.1:n.48-3566C>T (MFF-DT)
XM_005246276.2:c.4658G>A (COL4A3)	XP_005246333.1:p.Gly1553Asp
XM_005246277.2:c.4553G>A (COL4A3)	XP_005246334.1:p.Gly1518Asp
XM_011510555.1:c.4658G>A (COL4A3)	XP_011508857.1:p.Gly1553Asp
XM_011510556.1:c.3419G>A (COL4A3)	XP_011508858.1:p.Gly1140Asp
XR_241280.2:n.4618G>A (COL4A3)
XM_005246277.3:c.4553G>A (COL4A3)	XP_005246334.1:p.Gly1518Asp
XM_011510556.2:c.3419G>A (COL4A3)	XP_011508858.1:p.Gly1140Asp
XR_241280.3:n.4618G>A (COL4A3)
NM_000091.5:c.4658G>A (COL4A3) MANE Select	NP_000082.2:p.Gly1553Asp