Canonical Allele Identifier: CA2577265719

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312040T>G , CM000664.2:g.227312040T>G	GRCh38
NC_000002.11:g.228176756T>G , CM000664.1:g.228176756T>G	GRCh37
NC_000002.10:g.227885000T>G	NCBI36
NG_011591.1:g.152476T>G , LRG_230:g.152476T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2441T>G (COL4A3)
ENST00000682257.1:n.405T>G (COL4A3)
ENST00000682970.1:n.481T>G (COL4A3)
ENST00000683077.1:n.2122T>G (COL4A3)
ENST00000684413.1:n.2750T>G (COL4A3)
ENST00000684724.1:n.604T>G (COL4A3)
ENST00000396578.8:c.*170T>G (COL4A3) MANE Select	ENSP00000379823.3:n.*170T>G
ENST00000396578.7:c.*170T>G (COL4A3)	ENSP00000379823.3:n.*170T>G
NM_000091.4:c.*170T>G , LRG_230t1:c.*170T>G (COL4A3)	NP_000082.2:n.*170T>G
NR_102371.1:n.48-6385A>C (MFF-DT)
XM_005246276.2:c.*96T>G (COL4A3)	XP_005246333.1:n.*96T>G
XM_005246277.2:c.*170T>G (COL4A3)	XP_005246334.1:n.*170T>G
XM_011510556.1:c.*170T>G (COL4A3)	XP_011508858.1:n.*170T>G
XR_241280.2:n.5143T>G (COL4A3)
XM_005246277.3:c.*170T>G (COL4A3)	XP_005246334.1:n.*170T>G
XM_011510556.2:c.*170T>G (COL4A3)	XP_011508858.1:n.*170T>G
XR_241280.3:n.5143T>G (COL4A3)
NM_000091.5:c.*170T>G (COL4A3) MANE Select	NP_000082.2:n.*170T>G