Canonical Allele Identifier: CA350865471

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228173925C>A (hg19) ; chr2:g.227309209C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309209C>A , CM000664.2:g.227309209C>A	GRCh38
NC_000002.11:g.228173925C>A , CM000664.1:g.228173925C>A	GRCh37
NC_000002.10:g.227882169C>A	NCBI36
NG_011591.1:g.149645C>A , LRG_230:g.149645C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1904C>A (COL4A3)
ENST00000682257.1:n.41C>A (COL4A3)
ENST00000683077.1:n.128C>A (COL4A3)
ENST00000684413.1:n.2213C>A (COL4A3)
ENST00000684724.1:n.67C>A (COL4A3)
ENST00000396578.8:c.4646C>A (COL4A3) MANE Select	ENSP00000379823.3:p.Thr1549Asn
ENST00000469504.2:c.439C>A (COL4A3)	ENSP00000493493.1:p.Leu147Met
ENST00000643388.1:c.332C>A (COL4A3)	ENSP00000495177.1:p.Thr111Asn
ENST00000396578.7:c.4646C>A (COL4A3)	ENSP00000379823.3:p.Thr1549Asn
ENST00000469504.1:n.154C>A (COL4A3)
NM_000091.4:c.4646C>A , LRG_230t1:c.4646C>A (COL4A3)	NP_000082.2:p.Thr1549Asn
NR_102371.1:n.48-3554G>T (MFF-DT)
XM_005246276.2:c.4646C>A (COL4A3)	XP_005246333.1:p.Thr1549Asn
XM_005246277.2:c.4541C>A (COL4A3)	XP_005246334.1:p.Thr1514Asn
XM_011510555.1:c.4646C>A (COL4A3)	XP_011508857.1:p.Thr1549Asn
XM_011510556.1:c.3407C>A (COL4A3)	XP_011508858.1:p.Thr1136Asn
XR_241280.2:n.4606C>A (COL4A3)
XM_005246277.3:c.4541C>A (COL4A3)	XP_005246334.1:p.Thr1514Asn
XM_011510556.2:c.3407C>A (COL4A3)	XP_011508858.1:p.Thr1136Asn
XR_241280.3:n.4606C>A (COL4A3)
NM_000091.5:c.4646C>A (COL4A3) MANE Select	NP_000082.2:p.Thr1549Asn