Canonical Allele Identifier: CA350865091

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228173699G>T (hg19) ; chr2:g.227308983G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227308983G>T , CM000664.2:g.227308983G>T	GRCh38
NC_000002.11:g.228173699G>T , CM000664.1:g.228173699G>T	GRCh37
NC_000002.10:g.227881943G>T	NCBI36
NG_011591.1:g.149419G>T , LRG_230:g.149419G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1805G>T (COL4A3)
ENST00000683077.1:n.29G>T (COL4A3)
ENST00000684413.1:n.1987G>T (COL4A3)
ENST00000396578.8:c.4547G>T (COL4A3) MANE Select	ENSP00000379823.3:p.Arg1516Leu
ENST00000469504.2:c.434-221G>T (COL4A3)	ENSP00000493493.1:n.434-221G>T
ENST00000643388.1:c.233G>T (COL4A3)	ENSP00000495177.1:p.Arg78Leu
ENST00000396578.7:c.4547G>T (COL4A3)	ENSP00000379823.3:p.Arg1516Leu
ENST00000469504.1:n.149-221G>T (COL4A3)
NM_000091.4:c.4547G>T , LRG_230t1:c.4547G>T (COL4A3)	NP_000082.2:p.Arg1516Leu
NR_102371.1:n.48-3328C>A (MFF-DT)
XM_005246276.2:c.4547G>T (COL4A3)	XP_005246333.1:p.Arg1516Leu
XM_005246277.2:c.4442G>T (COL4A3)	XP_005246334.1:p.Arg1481Leu
XM_011510555.1:c.4547G>T (COL4A3)	XP_011508857.1:p.Arg1516Leu
XM_011510556.1:c.3308G>T (COL4A3)	XP_011508858.1:p.Arg1103Leu
XR_241280.2:n.4601-221G>T (COL4A3)
XM_005246277.3:c.4442G>T (COL4A3)	XP_005246334.1:p.Arg1481Leu
XM_011510556.2:c.3308G>T (COL4A3)	XP_011508858.1:p.Arg1103Leu
XR_241280.3:n.4601-221G>T (COL4A3)
NM_000091.5:c.4547G>T (COL4A3) MANE Select	NP_000082.2:p.Arg1516Leu