Canonical Allele Identifier: CA350866824

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228176558G>T (hg19) ; chr2:g.227311842G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311842G>T , CM000664.2:g.227311842G>T	GRCh38
NC_000002.11:g.228176558G>T , CM000664.1:g.228176558G>T	GRCh37
NC_000002.10:g.227884802G>T	NCBI36
NG_011591.1:g.152278G>T , LRG_230:g.152278G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.2243G>T (COL4A3)
ENST00000682257.1:n.207G>T (COL4A3)
ENST00000682970.1:n.283G>T (COL4A3)
ENST00000683077.1:n.1924G>T (COL4A3)
ENST00000684413.1:n.2552G>T (COL4A3)
ENST00000684724.1:n.406G>T (COL4A3)
ENST00000396578.8:c.4985G>T (COL4A3) MANE Select	ENSP00000379823.3:p.Cys1662Phe
ENST00000469504.2:c.778G>T (COL4A3)	ENSP00000493493.1:n.778G>T
ENST00000643388.1:c.498G>T (COL4A3)	ENSP00000495177.1:p.Leu166=
ENST00000396578.7:c.4985G>T (COL4A3)	ENSP00000379823.3:p.Cys1662Phe
ENST00000469504.1:n.493G>T (COL4A3)
NM_000091.4:c.4985G>T , LRG_230t1:c.4985G>T (COL4A3)	NP_000082.2:p.Cys1662Phe
NR_102371.1:n.48-6187C>A (MFF-DT)
XM_005246276.2:c.4812G>T (COL4A3)	XP_005246333.1:p.Leu1604=
XM_005246277.2:c.4880G>T (COL4A3)	XP_005246334.1:p.Cys1627Phe
XM_011510556.1:c.3746G>T (COL4A3)	XP_011508858.1:p.Cys1249Phe
XR_241280.2:n.4945G>T (COL4A3)
XM_005246277.3:c.4880G>T (COL4A3)	XP_005246334.1:p.Cys1627Phe
XM_011510556.2:c.3746G>T (COL4A3)	XP_011508858.1:p.Cys1249Phe
XR_241280.3:n.4945G>T (COL4A3)
NM_000091.5:c.4985G>T (COL4A3) MANE Select	NP_000082.2:p.Cys1662Phe