Canonical Allele Identifier: CA350866860

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228176574G>T (hg19) ; chr2:g.227311858G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311858G>T , CM000664.2:g.227311858G>T	GRCh38
NC_000002.11:g.228176574G>T , CM000664.1:g.228176574G>T	GRCh37
NC_000002.10:g.227884818G>T	NCBI36
NG_011591.1:g.152294G>T , LRG_230:g.152294G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2259G>T (COL4A3)
ENST00000682257.1:n.223G>T (COL4A3)
ENST00000682970.1:n.299G>T (COL4A3)
ENST00000683077.1:n.1940G>T (COL4A3)
ENST00000684413.1:n.2568G>T (COL4A3)
ENST00000684724.1:n.422G>T (COL4A3)
ENST00000396578.8:c.5001G>T (COL4A3) MANE Select	ENSP00000379823.3:p.Lys1667Asn
ENST00000469504.2:c.794G>T (COL4A3)	ENSP00000493493.1:n.794G>T
ENST00000643388.1:c.514G>T (COL4A3)	ENSP00000495177.1:p.Glu172Ter
ENST00000396578.7:c.5001G>T (COL4A3)	ENSP00000379823.3:p.Lys1667Asn
ENST00000469504.1:n.509G>T (COL4A3)
NM_000091.4:c.5001G>T , LRG_230t1:c.5001G>T (COL4A3)	NP_000082.2:p.Lys1667Asn
NR_102371.1:n.48-6203C>A (MFF-DT)
XM_005246276.2:c.4828G>T (COL4A3)	XP_005246333.1:p.Glu1610Ter
XM_005246277.2:c.4896G>T (COL4A3)	XP_005246334.1:p.Lys1632Asn
XM_011510556.1:c.3762G>T (COL4A3)	XP_011508858.1:p.Lys1254Asn
XR_241280.2:n.4961G>T (COL4A3)
XM_005246277.3:c.4896G>T (COL4A3)	XP_005246334.1:p.Lys1632Asn
XM_011510556.2:c.3762G>T (COL4A3)	XP_011508858.1:p.Lys1254Asn
XR_241280.3:n.4961G>T (COL4A3)
NM_000091.5:c.5001G>T (COL4A3) MANE Select	NP_000082.2:p.Lys1667Asn