Canonical Allele Identifier: CA350866708

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227311788-A-T
• MyVariant Identifiers: chr2:g.228176504A>T (hg19) ; chr2:g.227311788A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311788A>T , CM000664.2:g.227311788A>T	GRCh38
NC_000002.11:g.228176504A>T , CM000664.1:g.228176504A>T	GRCh37
NC_000002.10:g.227884748A>T	NCBI36
NG_011591.1:g.152224A>T , LRG_230:g.152224A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2189A>T (COL4A3)
ENST00000682257.1:n.153A>T (COL4A3)
ENST00000682970.1:n.229A>T (COL4A3)
ENST00000683077.1:n.1870A>T (COL4A3)
ENST00000684413.1:n.2498A>T (COL4A3)
ENST00000684724.1:n.352A>T (COL4A3)
ENST00000396578.8:c.4931A>T (COL4A3) MANE Select	ENSP00000379823.3:p.Lys1644Met
ENST00000469504.2:c.724A>T (COL4A3)	ENSP00000493493.1:n.724A>T
ENST00000643388.1:c.444A>T (COL4A3)	ENSP00000495177.1:p.Lys148Asn
ENST00000396578.7:c.4931A>T (COL4A3)	ENSP00000379823.3:p.Lys1644Met
ENST00000469504.1:n.439A>T (COL4A3)
NM_000091.4:c.4931A>T , LRG_230t1:c.4931A>T (COL4A3)	NP_000082.2:p.Lys1644Met
NR_102371.1:n.48-6133T>A (MFF-DT)
XM_005246276.2:c.4758A>T (COL4A3)	XP_005246333.1:p.Lys1586Asn
XM_005246277.2:c.4826A>T (COL4A3)	XP_005246334.1:p.Lys1609Met
XM_011510556.1:c.3692A>T (COL4A3)	XP_011508858.1:p.Lys1231Met
XR_241280.2:n.4891A>T (COL4A3)
XM_005246277.3:c.4826A>T (COL4A3)	XP_005246334.1:p.Lys1609Met
XM_011510556.2:c.3692A>T (COL4A3)	XP_011508858.1:p.Lys1231Met
XR_241280.3:n.4891A>T (COL4A3)
NM_000091.5:c.4931A>T (COL4A3) MANE Select	NP_000082.2:p.Lys1644Met