Canonical Allele Identifier: CA350849320

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228145296T>G (hg19) ; chr2:g.227280580T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227280580T>G , CM000664.2:g.227280580T>G	GRCh38
NC_000002.11:g.228145296T>G , CM000664.1:g.228145296T>G	GRCh37
NC_000002.10:g.227853540T>G	NCBI36
NG_011591.1:g.121016T>G , LRG_230:g.121016T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.2364T>G (COL4A3) MANE Select	ENSP00000379823.3:p.Asp788Glu
ENST00000396578.7:c.2364T>G (COL4A3)	ENSP00000379823.3:p.Asp788Glu
NM_000091.4:c.2364T>G , LRG_230t1:c.2364T>G (COL4A3)	NP_000082.2:p.Asp788Glu
NR_102371.1:n.330-1005A>C (MFF-DT)
XM_005246276.2:c.2364T>G (COL4A3)	XP_005246333.1:p.Asp788Glu
XM_005246277.2:c.2259T>G (COL4A3)	XP_005246334.1:p.Asp753Glu
XM_005246280.2:c.2364T>G (COL4A3)	XP_005246337.1:p.Asp788Glu
XM_006712245.2:c.2364T>G (COL4A3)	XP_006712308.1:p.Asp788Glu
XM_011510555.1:c.2364T>G (COL4A3)	XP_011508857.1:p.Asp788Glu
XM_011510556.1:c.1125T>G (COL4A3)	XP_011508858.1:p.Asp375Glu
XR_241280.2:n.2502T>G (COL4A3)
XM_005246277.3:c.2259T>G (COL4A3)	XP_005246334.1:p.Asp753Glu
XM_005246280.3:c.2364T>G (COL4A3)	XP_005246337.1:p.Asp788Glu
XM_006712245.3:c.2364T>G (COL4A3)	XP_006712308.1:p.Asp788Glu
XM_011510556.2:c.1125T>G (COL4A3)	XP_011508858.1:p.Asp375Glu
XM_017003295.1:c.2364T>G (COL4A3)	XP_016858784.1:p.Asp788Glu
XR_001738601.1:n.2502T>G (COL4A3)
XR_241280.3:n.2502T>G (COL4A3)
NM_000091.5:c.2364T>G (COL4A3) MANE Select	NP_000082.2:p.Asp788Glu