Canonical Allele Identifier: CA350866729

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227311797-C-T
• MyVariant Identifiers: chr2:g.228176513C>T (hg19) ; chr2:g.227311797C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311797C>T , CM000664.2:g.227311797C>T	GRCh38
NC_000002.11:g.228176513C>T , CM000664.1:g.228176513C>T	GRCh37
NC_000002.10:g.227884757C>T	NCBI36
NG_011591.1:g.152233C>T , LRG_230:g.152233C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2198C>T (COL4A3)
ENST00000682257.1:n.162C>T (COL4A3)
ENST00000682970.1:n.238C>T (COL4A3)
ENST00000683077.1:n.1879C>T (COL4A3)
ENST00000684413.1:n.2507C>T (COL4A3)
ENST00000684724.1:n.361C>T (COL4A3)
ENST00000396578.8:c.4940C>T (COL4A3) MANE Select	ENSP00000379823.3:p.Pro1647Leu
ENST00000469504.2:c.733C>T (COL4A3)	ENSP00000493493.1:n.733C>T
ENST00000643388.1:c.453C>T (COL4A3)	ENSP00000495177.1:p.Ser151=
ENST00000396578.7:c.4940C>T (COL4A3)	ENSP00000379823.3:p.Pro1647Leu
ENST00000469504.1:n.448C>T (COL4A3)
NM_000091.4:c.4940C>T , LRG_230t1:c.4940C>T (COL4A3)	NP_000082.2:p.Pro1647Leu
NR_102371.1:n.48-6142G>A (MFF-DT)
XM_005246276.2:c.4767C>T (COL4A3)	XP_005246333.1:p.Ser1589=
XM_005246277.2:c.4835C>T (COL4A3)	XP_005246334.1:p.Pro1612Leu
XM_011510556.1:c.3701C>T (COL4A3)	XP_011508858.1:p.Pro1234Leu
XR_241280.2:n.4900C>T (COL4A3)
XM_005246277.3:c.4835C>T (COL4A3)	XP_005246334.1:p.Pro1612Leu
XM_011510556.2:c.3701C>T (COL4A3)	XP_011508858.1:p.Pro1234Leu
XR_241280.3:n.4900C>T (COL4A3)
NM_000091.5:c.4940C>T (COL4A3) MANE Select	NP_000082.2:p.Pro1647Leu