Canonical Allele Identifier: CA16044146

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 224788
• ClinVar RCV Id: RCV000416827 ; RCV002515584
• dbSNP Id: rs1057519377
• MyVariant Identifiers: chr2:g.228173626A>T (hg19) ; chr2:g.227308910A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227308910A>T , CM000664.2:g.227308910A>T	GRCh38
NC_000002.11:g.228173626A>T , CM000664.1:g.228173626A>T	GRCh37
NC_000002.10:g.227881870A>T	NCBI36
NG_011591.1:g.149346A>T , LRG_230:g.149346A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1732A>T (COL4A3)
ENST00000684413.1:n.1914A>T (COL4A3)
ENST00000396578.8:c.4474A>T (COL4A3) MANE Select	ENSP00000379823.3:p.Ser1492Cys
ENST00000469504.2:c.434-294A>T (COL4A3)	ENSP00000493493.1:n.434-294A>T
ENST00000643388.1:c.160A>T (COL4A3)	ENSP00000495177.1:p.Ser54Cys
ENST00000396578.7:c.4474A>T (COL4A3)	ENSP00000379823.3:p.Ser1492Cys
ENST00000469504.1:n.149-294A>T (COL4A3)
NM_000091.4:c.4474A>T , LRG_230t1:c.4474A>T (COL4A3)	NP_000082.2:p.Ser1492Cys
NR_102371.1:n.48-3255T>A (MFF-DT)
XM_005246276.2:c.4474A>T (COL4A3)	XP_005246333.1:p.Ser1492Cys
XM_005246277.2:c.4369A>T (COL4A3)	XP_005246334.1:p.Ser1457Cys
XM_011510555.1:c.4474A>T (COL4A3)	XP_011508857.1:p.Ser1492Cys
XM_011510556.1:c.3235A>T (COL4A3)	XP_011508858.1:p.Ser1079Cys
XR_241280.2:n.4601-294A>T (COL4A3)
XM_005246277.3:c.4369A>T (COL4A3)	XP_005246334.1:p.Ser1457Cys
XM_011510556.2:c.3235A>T (COL4A3)	XP_011508858.1:p.Ser1079Cys
XR_241280.3:n.4601-294A>T (COL4A3)
NM_000091.5:c.4474A>T (COL4A3) MANE Select	NP_000082.2:p.Ser1492Cys