Canonical Allele Identifier: CA431663841

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228173727A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309011A>C , CM000664.2:g.227309011A>C	GRCh38
NC_000002.11:g.228173727A>C , CM000664.1:g.228173727A>C	GRCh37
NC_000002.10:g.227881971A>C	NCBI36
NG_011591.1:g.149447A>C , LRG_230:g.149447A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.1833A>C (COL4A3)
ENST00000683077.1:n.57A>C (COL4A3)
ENST00000684413.1:n.2015A>C (COL4A3)
ENST00000396578.8:c.4575A>C (COL4A3) MANE Select	ENSP00000379823.3:p.Thr1525=
ENST00000469504.2:c.434-193A>C (COL4A3)	ENSP00000493493.1:n.434-193A>C
ENST00000643388.1:c.261A>C (COL4A3)	ENSP00000495177.1:p.Thr87=
ENST00000396578.7:c.4575A>C (COL4A3)	ENSP00000379823.3:p.Thr1525=
ENST00000469504.1:n.149-193A>C (COL4A3)
NM_000091.4:c.4575A>C , LRG_230t1:c.4575A>C (COL4A3)	NP_000082.2:p.Thr1525=
NR_102371.1:n.48-3356T>G (MFF-DT)
XM_005246276.2:c.4575A>C (COL4A3)	XP_005246333.1:p.Thr1525=
XM_005246277.2:c.4470A>C (COL4A3)	XP_005246334.1:p.Thr1490=
XM_011510555.1:c.4575A>C (COL4A3)	XP_011508857.1:p.Thr1525=
XM_011510556.1:c.3336A>C (COL4A3)	XP_011508858.1:p.Thr1112=
XR_241280.2:n.4601-193A>C (COL4A3)
XM_005246277.3:c.4470A>C (COL4A3)	XP_005246334.1:p.Thr1490=
XM_011510556.2:c.3336A>C (COL4A3)	XP_011508858.1:p.Thr1112=
XR_241280.3:n.4601-193A>C (COL4A3)
NM_000091.5:c.4575A>C (COL4A3) MANE Select	NP_000082.2:p.Thr1525=