Canonical Allele Identifier: CA350866866

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228176576A>T (hg19) ; chr2:g.227311860A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311860A>T , CM000664.2:g.227311860A>T	GRCh38
NC_000002.11:g.228176576A>T , CM000664.1:g.228176576A>T	GRCh37
NC_000002.10:g.227884820A>T	NCBI36
NG_011591.1:g.152296A>T , LRG_230:g.152296A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2261A>T (COL4A3)
ENST00000682257.1:n.225A>T (COL4A3)
ENST00000682970.1:n.301A>T (COL4A3)
ENST00000683077.1:n.1942A>T (COL4A3)
ENST00000684413.1:n.2570A>T (COL4A3)
ENST00000684724.1:n.424A>T (COL4A3)
ENST00000396578.8:c.5003A>T (COL4A3) MANE Select	ENSP00000379823.3:p.Lys1668Ile
ENST00000469504.2:c.796A>T (COL4A3)	ENSP00000493493.1:n.796A>T
ENST00000643388.1:c.516A>T (COL4A3)	ENSP00000495177.1:p.Glu172Asp
ENST00000396578.7:c.5003A>T (COL4A3)	ENSP00000379823.3:p.Lys1668Ile
ENST00000469504.1:n.511A>T (COL4A3)
NM_000091.4:c.5003A>T , LRG_230t1:c.5003A>T (COL4A3)	NP_000082.2:p.Lys1668Ile
NR_102371.1:n.48-6205T>A (MFF-DT)
XM_005246276.2:c.4830A>T (COL4A3)	XP_005246333.1:p.Glu1610Asp
XM_005246277.2:c.4898A>T (COL4A3)	XP_005246334.1:p.Lys1633Ile
XM_011510556.1:c.3764A>T (COL4A3)	XP_011508858.1:p.Lys1255Ile
XR_241280.2:n.4963A>T (COL4A3)
XM_005246277.3:c.4898A>T (COL4A3)	XP_005246334.1:p.Lys1633Ile
XM_011510556.2:c.3764A>T (COL4A3)	XP_011508858.1:p.Lys1255Ile
XR_241280.3:n.4963A>T (COL4A3)
NM_000091.5:c.5003A>T (COL4A3) MANE Select	NP_000082.2:p.Lys1668Ile