Canonical Allele Identifier: CA350866796

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228176544A>T (hg19) ; chr2:g.227311828A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311828A>T , CM000664.2:g.227311828A>T	GRCh38
NC_000002.11:g.228176544A>T , CM000664.1:g.228176544A>T	GRCh37
NC_000002.10:g.227884788A>T	NCBI36
NG_011591.1:g.152264A>T , LRG_230:g.152264A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2229A>T (COL4A3)
ENST00000682257.1:n.193A>T (COL4A3)
ENST00000682970.1:n.269A>T (COL4A3)
ENST00000683077.1:n.1910A>T (COL4A3)
ENST00000684413.1:n.2538A>T (COL4A3)
ENST00000684724.1:n.392A>T (COL4A3)
ENST00000396578.8:c.4971A>T (COL4A3) MANE Select	ENSP00000379823.3:p.Lys1657Asn
ENST00000469504.2:c.764A>T (COL4A3)	ENSP00000493493.1:n.764A>T
ENST00000643388.1:c.484A>T (COL4A3)	ENSP00000495177.1:p.Asn162Tyr
ENST00000396578.7:c.4971A>T (COL4A3)	ENSP00000379823.3:p.Lys1657Asn
ENST00000469504.1:n.479A>T (COL4A3)
NM_000091.4:c.4971A>T , LRG_230t1:c.4971A>T (COL4A3)	NP_000082.2:p.Lys1657Asn
NR_102371.1:n.48-6173T>A (MFF-DT)
XM_005246276.2:c.4798A>T (COL4A3)	XP_005246333.1:p.Asn1600Tyr
XM_005246277.2:c.4866A>T (COL4A3)	XP_005246334.1:p.Lys1622Asn
XM_011510556.1:c.3732A>T (COL4A3)	XP_011508858.1:p.Lys1244Asn
XR_241280.2:n.4931A>T (COL4A3)
XM_005246277.3:c.4866A>T (COL4A3)	XP_005246334.1:p.Lys1622Asn
XM_011510556.2:c.3732A>T (COL4A3)	XP_011508858.1:p.Lys1244Asn
XR_241280.3:n.4931A>T (COL4A3)
NM_000091.5:c.4971A>T (COL4A3) MANE Select	NP_000082.2:p.Lys1657Asn