Canonical Allele Identifier: CA350865686

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228173988G>C (hg19) ; chr2:g.227309272G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309272G>C , CM000664.2:g.227309272G>C	GRCh38
NC_000002.11:g.228173988G>C , CM000664.1:g.228173988G>C	GRCh37
NC_000002.10:g.227882232G>C	NCBI36
NG_011591.1:g.149708G>C , LRG_230:g.149708G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.1967G>C (COL4A3)
ENST00000682257.1:n.104G>C (COL4A3)
ENST00000682970.1:n.20G>C (COL4A3)
ENST00000683077.1:n.191G>C (COL4A3)
ENST00000684413.1:n.2276G>C (COL4A3)
ENST00000684724.1:n.130G>C (COL4A3)
ENST00000396578.8:c.4709G>C (COL4A3) MANE Select	ENSP00000379823.3:p.Cys1570Ser
ENST00000469504.2:c.502G>C (COL4A3)	ENSP00000493493.1:n.502G>C
ENST00000643388.1:c.395G>C (COL4A3)	ENSP00000495177.1:p.Cys132Ser
ENST00000396578.7:c.4709G>C (COL4A3)	ENSP00000379823.3:p.Cys1570Ser
ENST00000469504.1:n.217G>C (COL4A3)
NM_000091.4:c.4709G>C , LRG_230t1:c.4709G>C (COL4A3)	NP_000082.2:p.Cys1570Ser
NR_102371.1:n.48-3617C>G (MFF-DT)
XM_005246276.2:c.4709G>C (COL4A3)	XP_005246333.1:p.Cys1570Ser
XM_005246277.2:c.4604G>C (COL4A3)	XP_005246334.1:p.Cys1535Ser
XM_011510555.1:c.4709G>C (COL4A3)	XP_011508857.1:p.Cys1570Ser
XM_011510556.1:c.3470G>C (COL4A3)	XP_011508858.1:p.Cys1157Ser
XR_241280.2:n.4669G>C (COL4A3)
XM_005246277.3:c.4604G>C (COL4A3)	XP_005246334.1:p.Cys1535Ser
XM_011510556.2:c.3470G>C (COL4A3)	XP_011508858.1:p.Cys1157Ser
XR_241280.3:n.4669G>C (COL4A3)
NM_000091.5:c.4709G>C (COL4A3) MANE Select	NP_000082.2:p.Cys1570Ser