Canonical Allele Identifier: CA350856142

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227290888T>C , CM000664.2:g.227290888T>C	GRCh38
NC_000002.11:g.228155604T>C , CM000664.1:g.228155604T>C	GRCh37
NC_000002.10:g.227863848T>C	NCBI36
NG_011591.1:g.131324T>C , LRG_230:g.131324T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.3210+2T>C (COL4A3) MANE Select	NP_000082.2:n.3210+2T>C
ENST00000396578.8:c.3210+2T>C (COL4A3) MANE Select	ENSP00000379823.3:n.3210+2T>C
NM_000091.4:c.3210+2T>C , LRG_230t1:c.3210+2T>C (COL4A3)	NP_000082.2:n.3210+2T>C
NR_102371.1:n.244-9099A>G (MFF-DT)
ENST00000304990.8:c.321+2T>C (COL4A3)	ENSP00000302781.8:n.321+2T>C
ENST00000396578.7:c.3210+2T>C (COL4A3)	ENSP00000379823.3:n.3210+2T>C
ENST00000487633.1:n.373T>C (COL4A3)
XM_005246276.2:c.3210+2T>C (COL4A3)	XP_005246333.1:n.3210+2T>C
XM_005246277.2:c.3105+2T>C (COL4A3)	XP_005246334.1:n.3105+2T>C
XM_005246277.3:c.3105+2T>C (COL4A3)	XP_005246334.1:n.3105+2T>C
XM_005246280.2:c.3133+79T>C (COL4A3)	XP_005246337.1:n.3133+79T>C
XM_005246280.3:c.3133+79T>C (COL4A3)	XP_005246337.1:n.3133+79T>C
XM_006712245.2:c.3210+2T>C (COL4A3)	XP_006712308.1:n.3210+2T>C
XM_006712245.3:c.3210+2T>C (COL4A3)	XP_006712308.1:n.3210+2T>C
XM_011510555.1:c.3210+2T>C (COL4A3)	XP_011508857.1:n.3210+2T>C
XM_011510556.1:c.1971+2T>C (COL4A3)	XP_011508858.1:n.1971+2T>C
XM_011510556.2:c.1971+2T>C (COL4A3)	XP_011508858.1:n.1971+2T>C
XM_017003295.1:c.3210+2T>C (COL4A3)	XP_016858784.1:n.3210+2T>C
XR_001738601.1:n.3348+2T>C (COL4A3)
XR_241280.2:n.3348+2T>C (COL4A3)
XR_241280.3:n.3348+2T>C (COL4A3)