Canonical Allele Identifier: CA350866820

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228176557T>C (hg19) ; chr2:g.227311841T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311841T>C , CM000664.2:g.227311841T>C	GRCh38
NC_000002.11:g.228176557T>C , CM000664.1:g.228176557T>C	GRCh37
NC_000002.10:g.227884801T>C	NCBI36
NG_011591.1:g.152277T>C , LRG_230:g.152277T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.2242T>C (COL4A3)
ENST00000682257.1:n.206T>C (COL4A3)
ENST00000682970.1:n.282T>C (COL4A3)
ENST00000683077.1:n.1923T>C (COL4A3)
ENST00000684413.1:n.2551T>C (COL4A3)
ENST00000684724.1:n.405T>C (COL4A3)
ENST00000396578.8:c.4984T>C (COL4A3) MANE Select	ENSP00000379823.3:p.Cys1662Arg
ENST00000469504.2:c.777T>C (COL4A3)	ENSP00000493493.1:n.777T>C
ENST00000643388.1:c.497T>C (COL4A3)	ENSP00000495177.1:p.Leu166Pro
ENST00000396578.7:c.4984T>C (COL4A3)	ENSP00000379823.3:p.Cys1662Arg
ENST00000469504.1:n.492T>C (COL4A3)
NM_000091.4:c.4984T>C , LRG_230t1:c.4984T>C (COL4A3)	NP_000082.2:p.Cys1662Arg
NR_102371.1:n.48-6186A>G (MFF-DT)
XM_005246276.2:c.4811T>C (COL4A3)	XP_005246333.1:p.Leu1604Pro
XM_005246277.2:c.4879T>C (COL4A3)	XP_005246334.1:p.Cys1627Arg
XM_011510556.1:c.3745T>C (COL4A3)	XP_011508858.1:p.Cys1249Arg
XR_241280.2:n.4944T>C (COL4A3)
XM_005246277.3:c.4879T>C (COL4A3)	XP_005246334.1:p.Cys1627Arg
XM_011510556.2:c.3745T>C (COL4A3)	XP_011508858.1:p.Cys1249Arg
XR_241280.3:n.4944T>C (COL4A3)
NM_000091.5:c.4984T>C (COL4A3) MANE Select	NP_000082.2:p.Cys1662Arg