Canonical Allele Identifier: CA350856093

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227290879-G-A
• COSMIC: COSM5396401 ; COSM5396402
• MyVariant Identifiers: chr2:g.228155595G>A (hg19) ; chr2:g.227290879G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227290879G>A , CM000664.2:g.227290879G>A	GRCh38
NC_000002.11:g.228155595G>A , CM000664.1:g.228155595G>A	GRCh37
NC_000002.10:g.227863839G>A	NCBI36
NG_011591.1:g.131315G>A , LRG_230:g.131315G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.3203G>A (COL4A3) MANE Select	ENSP00000379823.3:p.Gly1068Glu
ENST00000304990.8:c.314G>A (COL4A3)	ENSP00000302781.8:p.Gly105Glu
ENST00000396578.7:c.3203G>A (COL4A3)	ENSP00000379823.3:p.Gly1068Glu
ENST00000487633.1:n.364G>A (COL4A3)
NM_000091.4:c.3203G>A , LRG_230t1:c.3203G>A (COL4A3)	NP_000082.2:p.Gly1068Glu
NR_102371.1:n.244-9090C>T (MFF-DT)
XM_005246276.2:c.3203G>A (COL4A3)	XP_005246333.1:p.Gly1068Glu
XM_005246277.2:c.3098G>A (COL4A3)	XP_005246334.1:p.Gly1033Glu
XM_005246280.2:c.3133+70G>A (COL4A3)	XP_005246337.1:n.3133+70G>A
XM_006712245.2:c.3203G>A (COL4A3)	XP_006712308.1:p.Gly1068Glu
XM_011510555.1:c.3203G>A (COL4A3)	XP_011508857.1:p.Gly1068Glu
XM_011510556.1:c.1964G>A (COL4A3)	XP_011508858.1:p.Gly655Glu
XR_241280.2:n.3341G>A (COL4A3)
XM_005246277.3:c.3098G>A (COL4A3)	XP_005246334.1:p.Gly1033Glu
XM_005246280.3:c.3133+70G>A (COL4A3)	XP_005246337.1:n.3133+70G>A
XM_006712245.3:c.3203G>A (COL4A3)	XP_006712308.1:p.Gly1068Glu
XM_011510556.2:c.1964G>A (COL4A3)	XP_011508858.1:p.Gly655Glu
XM_017003295.1:c.3203G>A (COL4A3)	XP_016858784.1:p.Gly1068Glu
XR_001738601.1:n.3341G>A (COL4A3)
XR_241280.3:n.3341G>A (COL4A3)
NM_000091.5:c.3203G>A (COL4A3) MANE Select	NP_000082.2:p.Gly1068Glu