Canonical Allele Identifier: CA66623486

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs965343583
• MyVariant Identifiers: chr2:g.228176521G>A (hg19) ; chr2:g.227311805G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311805G>A , CM000664.2:g.227311805G>A	GRCh38
NC_000002.11:g.228176521G>A , CM000664.1:g.228176521G>A	GRCh37
NC_000002.10:g.227884765G>A	NCBI36
NG_011591.1:g.152241G>A , LRG_230:g.152241G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2206G>A (COL4A3)
ENST00000682257.1:n.170G>A (COL4A3)
ENST00000682970.1:n.246G>A (COL4A3)
ENST00000683077.1:n.1887G>A (COL4A3)
ENST00000684413.1:n.2515G>A (COL4A3)
ENST00000684724.1:n.369G>A (COL4A3)
ENST00000396578.8:c.4948G>A (COL4A3) MANE Select	ENSP00000379823.3:p.Val1650Met
ENST00000469504.2:c.741G>A (COL4A3)	ENSP00000493493.1:n.741G>A
ENST00000643388.1:c.461G>A (COL4A3)	ENSP00000495177.1:p.Cys154Tyr
ENST00000396578.7:c.4948G>A (COL4A3)	ENSP00000379823.3:p.Val1650Met
ENST00000469504.1:n.456G>A (COL4A3)
NM_000091.4:c.4948G>A , LRG_230t1:c.4948G>A (COL4A3)	NP_000082.2:p.Val1650Met
NR_102371.1:n.48-6150C>T (MFF-DT)
XM_005246276.2:c.4775G>A (COL4A3)	XP_005246333.1:p.Cys1592Tyr
XM_005246277.2:c.4843G>A (COL4A3)	XP_005246334.1:p.Val1615Met
XM_011510556.1:c.3709G>A (COL4A3)	XP_011508858.1:p.Val1237Met
XR_241280.2:n.4908G>A (COL4A3)
XM_005246277.3:c.4843G>A (COL4A3)	XP_005246334.1:p.Val1615Met
XM_011510556.2:c.3709G>A (COL4A3)	XP_011508858.1:p.Val1237Met
XR_241280.3:n.4908G>A (COL4A3)
NM_000091.5:c.4948G>A (COL4A3) MANE Select	NP_000082.2:p.Val1650Met