Canonical Allele Identifier: CA2147330

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227297821C>G , CM000664.2:g.227297821C>G	GRCh38
NC_000002.11:g.228162537C>G , CM000664.1:g.228162537C>G	GRCh37
NC_000002.10:g.227870781C>G	NCBI36
NG_011591.1:g.138257C>G , LRG_230:g.138257C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.3713C>G (COL4A3) MANE Select	NP_000082.2:p.Thr1238Arg
ENST00000396578.8:c.3713C>G (COL4A3) MANE Select	ENSP00000379823.3:p.Thr1238Arg
NM_000091.4:c.3713C>G , LRG_230t1:c.3713C>G (COL4A3)	NP_000082.2:p.Thr1238Arg
NR_102371.1:n.243+7639G>C (MFF-DT)
ENST00000396578.7:c.3713C>G (COL4A3)	ENSP00000379823.3:p.Thr1238Arg
ENST00000468753.5:n.376C>G (COL4A3)
ENST00000471862.1:n.131C>G (COL4A3)
ENST00000471862.2:n.131C>G (COL4A3)
XM_005246276.2:c.3713C>G (COL4A3)	XP_005246333.1:p.Thr1238Arg
XM_005246277.2:c.3608C>G (COL4A3)	XP_005246334.1:p.Thr1203Arg
XM_005246277.3:c.3608C>G (COL4A3)	XP_005246334.1:p.Thr1203Arg
XM_011510555.1:c.3713C>G (COL4A3)	XP_011508857.1:p.Thr1238Arg
XM_011510556.1:c.2474C>G (COL4A3)	XP_011508858.1:p.Thr825Arg
XM_011510556.2:c.2474C>G (COL4A3)	XP_011508858.1:p.Thr825Arg
XR_241280.2:n.3851C>G (COL4A3)
XR_241280.3:n.3851C>G (COL4A3)