Canonical Allele Identifier: CA350866842

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228176566T>G (hg19) ; chr2:g.227311850T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311850T>G , CM000664.2:g.227311850T>G	GRCh38
NC_000002.11:g.228176566T>G , CM000664.1:g.228176566T>G	GRCh37
NC_000002.10:g.227884810T>G	NCBI36
NG_011591.1:g.152286T>G , LRG_230:g.152286T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.2251T>G (COL4A3)
ENST00000682257.1:n.215T>G (COL4A3)
ENST00000682970.1:n.291T>G (COL4A3)
ENST00000683077.1:n.1932T>G (COL4A3)
ENST00000684413.1:n.2560T>G (COL4A3)
ENST00000684724.1:n.414T>G (COL4A3)
ENST00000396578.8:c.4993T>G (COL4A3) MANE Select	ENSP00000379823.3:p.Cys1665Gly
ENST00000469504.2:c.786T>G (COL4A3)	ENSP00000493493.1:n.786T>G
ENST00000643388.1:c.506T>G (COL4A3)	ENSP00000495177.1:p.Val169Gly
ENST00000396578.7:c.4993T>G (COL4A3)	ENSP00000379823.3:p.Cys1665Gly
ENST00000469504.1:n.501T>G (COL4A3)
NM_000091.4:c.4993T>G , LRG_230t1:c.4993T>G (COL4A3)	NP_000082.2:p.Cys1665Gly
NR_102371.1:n.48-6195A>C (MFF-DT)
XM_005246276.2:c.4820T>G (COL4A3)	XP_005246333.1:p.Val1607Gly
XM_005246277.2:c.4888T>G (COL4A3)	XP_005246334.1:p.Cys1630Gly
XM_011510556.1:c.3754T>G (COL4A3)	XP_011508858.1:p.Cys1252Gly
XR_241280.2:n.4953T>G (COL4A3)
XM_005246277.3:c.4888T>G (COL4A3)	XP_005246334.1:p.Cys1630Gly
XM_011510556.2:c.3754T>G (COL4A3)	XP_011508858.1:p.Cys1252Gly
XR_241280.3:n.4953T>G (COL4A3)
NM_000091.5:c.4993T>G (COL4A3) MANE Select	NP_000082.2:p.Cys1665Gly