Canonical Allele Identifier: CA350865513

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228173939C>A (hg19) ; chr2:g.227309223C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309223C>A , CM000664.2:g.227309223C>A	GRCh38
NC_000002.11:g.228173939C>A , CM000664.1:g.228173939C>A	GRCh37
NC_000002.10:g.227882183C>A	NCBI36
NG_011591.1:g.149659C>A , LRG_230:g.149659C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1918C>A (COL4A3)
ENST00000682257.1:n.55C>A (COL4A3)
ENST00000683077.1:n.142C>A (COL4A3)
ENST00000684413.1:n.2227C>A (COL4A3)
ENST00000684724.1:n.81C>A (COL4A3)
ENST00000396578.8:c.4660C>A (COL4A3) MANE Select	ENSP00000379823.3:p.Pro1554Thr
ENST00000469504.2:c.453C>A (COL4A3)	ENSP00000493493.1:p.Val151=
ENST00000643388.1:c.346C>A (COL4A3)	ENSP00000495177.1:p.Pro116Thr
ENST00000396578.7:c.4660C>A (COL4A3)	ENSP00000379823.3:p.Pro1554Thr
ENST00000469504.1:n.168C>A (COL4A3)
NM_000091.4:c.4660C>A , LRG_230t1:c.4660C>A (COL4A3)	NP_000082.2:p.Pro1554Thr
NR_102371.1:n.48-3568G>T (MFF-DT)
XM_005246276.2:c.4660C>A (COL4A3)	XP_005246333.1:p.Pro1554Thr
XM_005246277.2:c.4555C>A (COL4A3)	XP_005246334.1:p.Pro1519Thr
XM_011510555.1:c.4660C>A (COL4A3)	XP_011508857.1:p.Pro1554Thr
XM_011510556.1:c.3421C>A (COL4A3)	XP_011508858.1:p.Pro1141Thr
XR_241280.2:n.4620C>A (COL4A3)
XM_005246277.3:c.4555C>A (COL4A3)	XP_005246334.1:p.Pro1519Thr
XM_011510556.2:c.3421C>A (COL4A3)	XP_011508858.1:p.Pro1141Thr
XR_241280.3:n.4620C>A (COL4A3)
NM_000091.5:c.4660C>A (COL4A3) MANE Select	NP_000082.2:p.Pro1554Thr