Canonical Allele Identifier: CA350866833

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228176562G>C (hg19) ; chr2:g.227311846G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311846G>C , CM000664.2:g.227311846G>C	GRCh38
NC_000002.11:g.228176562G>C , CM000664.1:g.228176562G>C	GRCh37
NC_000002.10:g.227884806G>C	NCBI36
NG_011591.1:g.152282G>C , LRG_230:g.152282G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.2247G>C (COL4A3)
ENST00000682257.1:n.211G>C (COL4A3)
ENST00000682970.1:n.287G>C (COL4A3)
ENST00000683077.1:n.1928G>C (COL4A3)
ENST00000684413.1:n.2556G>C (COL4A3)
ENST00000684724.1:n.410G>C (COL4A3)
ENST00000396578.8:c.4989G>C (COL4A3) MANE Select	ENSP00000379823.3:p.Gln1663His
ENST00000469504.2:c.782G>C (COL4A3)	ENSP00000493493.1:n.782G>C
ENST00000643388.1:c.502G>C (COL4A3)	ENSP00000495177.1:p.Gly168Arg
ENST00000396578.7:c.4989G>C (COL4A3)	ENSP00000379823.3:p.Gln1663His
ENST00000469504.1:n.497G>C (COL4A3)
NM_000091.4:c.4989G>C , LRG_230t1:c.4989G>C (COL4A3)	NP_000082.2:p.Gln1663His
NR_102371.1:n.48-6191C>G (MFF-DT)
XM_005246276.2:c.4816G>C (COL4A3)	XP_005246333.1:p.Gly1606Arg
XM_005246277.2:c.4884G>C (COL4A3)	XP_005246334.1:p.Gln1628His
XM_011510556.1:c.3750G>C (COL4A3)	XP_011508858.1:p.Gln1250His
XR_241280.2:n.4949G>C (COL4A3)
XM_005246277.3:c.4884G>C (COL4A3)	XP_005246334.1:p.Gln1628His
XM_011510556.2:c.3750G>C (COL4A3)	XP_011508858.1:p.Gln1250His
XR_241280.3:n.4949G>C (COL4A3)
NM_000091.5:c.4989G>C (COL4A3) MANE Select	NP_000082.2:p.Gln1663His