Canonical Allele Identifier: CA350866819

Gene: COL4A3 MFF-DT

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.2242T>G (COL4A3)
ENST00000682257.1:n.206T>G (COL4A3)
ENST00000682970.1:n.282T>G (COL4A3)
ENST00000683077.1:n.1923T>G (COL4A3)
ENST00000684413.1:n.2551T>G (COL4A3)
ENST00000684724.1:n.405T>G (COL4A3)
ENST00000396578.8:c.4984T>G (COL4A3) MANE Select	ENSP00000379823.3:p.Cys1662Gly
ENST00000469504.2:c.777T>G (COL4A3)	ENSP00000493493.1:n.777T>G
ENST00000643388.1:c.497T>G (COL4A3)	ENSP00000495177.1:p.Leu166Arg
ENST00000396578.7:c.4984T>G (COL4A3)	ENSP00000379823.3:p.Cys1662Gly
ENST00000469504.1:n.492T>G (COL4A3)
NM_000091.4:c.4984T>G , LRG_230t1:c.4984T>G (COL4A3)	NP_000082.2:p.Cys1662Gly
NR_102371.1:n.48-6186A>C (MFF-DT)
XM_005246276.2:c.4811T>G (COL4A3)	XP_005246333.1:p.Leu1604Arg
XM_005246277.2:c.4879T>G (COL4A3)	XP_005246334.1:p.Cys1627Gly
XM_011510556.1:c.3745T>G (COL4A3)	XP_011508858.1:p.Cys1249Gly
XR_241280.2:n.4944T>G (COL4A3)
XM_005246277.3:c.4879T>G (COL4A3)	XP_005246334.1:p.Cys1627Gly
XM_011510556.2:c.3745T>G (COL4A3)	XP_011508858.1:p.Cys1249Gly
XR_241280.3:n.4944T>G (COL4A3)
NM_000091.5:c.4984T>G (COL4A3) MANE Select	NP_000082.2:p.Cys1662Gly