Canonical Allele Identifier: CA431509596

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228176565G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311849G>T , CM000664.2:g.227311849G>T	GRCh38
NC_000002.11:g.228176565G>T , CM000664.1:g.228176565G>T	GRCh37
NC_000002.10:g.227884809G>T	NCBI36
NG_011591.1:g.152285G>T , LRG_230:g.152285G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.2250G>T (COL4A3)
ENST00000682257.1:n.214G>T (COL4A3)
ENST00000682970.1:n.290G>T (COL4A3)
ENST00000683077.1:n.1931G>T (COL4A3)
ENST00000684413.1:n.2559G>T (COL4A3)
ENST00000684724.1:n.413G>T (COL4A3)
ENST00000396578.8:c.4992G>T (COL4A3) MANE Select	ENSP00000379823.3:p.Val1664=
ENST00000469504.2:c.785G>T (COL4A3)	ENSP00000493493.1:n.785G>T
ENST00000643388.1:c.505G>T (COL4A3)	ENSP00000495177.1:p.Val169Leu
ENST00000396578.7:c.4992G>T (COL4A3)	ENSP00000379823.3:p.Val1664=
ENST00000469504.1:n.500G>T (COL4A3)
NM_000091.4:c.4992G>T , LRG_230t1:c.4992G>T (COL4A3)	NP_000082.2:p.Val1664=
NR_102371.1:n.48-6194C>A (MFF-DT)
XM_005246276.2:c.4819G>T (COL4A3)	XP_005246333.1:p.Val1607Leu
XM_005246277.2:c.4887G>T (COL4A3)	XP_005246334.1:p.Val1629=
XM_011510556.1:c.3753G>T (COL4A3)	XP_011508858.1:p.Val1251=
XR_241280.2:n.4952G>T (COL4A3)
XM_005246277.3:c.4887G>T (COL4A3)	XP_005246334.1:p.Val1629=
XM_011510556.2:c.3753G>T (COL4A3)	XP_011508858.1:p.Val1251=
XR_241280.3:n.4952G>T (COL4A3)
NM_000091.5:c.4992G>T (COL4A3) MANE Select	NP_000082.2:p.Val1664=