Canonical Allele Identifier: CA2147086

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227290077T>C , CM000664.2:g.227290077T>C	GRCh38
NC_000002.11:g.228154793T>C , CM000664.1:g.228154793T>C	GRCh37
NC_000002.10:g.227863037T>C	NCBI36
NG_011591.1:g.130513T>C , LRG_230:g.130513T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.3059T>C (COL4A3) MANE Select	NP_000082.2:p.Met1020Thr
ENST00000396578.8:c.3059T>C (COL4A3) MANE Select	ENSP00000379823.3:p.Met1020Thr
NM_000091.4:c.3059T>C , LRG_230t1:c.3059T>C (COL4A3)	NP_000082.2:p.Met1020Thr
NR_102371.1:n.244-8288A>G (MFF-DT)
ENST00000304990.8:c.170T>C (COL4A3)	ENSP00000302781.8:p.Met57Thr
ENST00000396578.7:c.3059T>C (COL4A3)	ENSP00000379823.3:p.Met1020Thr
ENST00000487633.1:n.220T>C (COL4A3)
XM_005246276.2:c.3059T>C (COL4A3)	XP_005246333.1:p.Met1020Thr
XM_005246277.2:c.2954T>C (COL4A3)	XP_005246334.1:p.Met985Thr
XM_005246277.3:c.2954T>C (COL4A3)	XP_005246334.1:p.Met985Thr
XM_005246280.2:c.3059T>C (COL4A3)	XP_005246337.1:p.Met1020Thr
XM_005246280.3:c.3059T>C (COL4A3)	XP_005246337.1:p.Met1020Thr
XM_006712245.2:c.3059T>C (COL4A3)	XP_006712308.1:p.Met1020Thr
XM_006712245.3:c.3059T>C (COL4A3)	XP_006712308.1:p.Met1020Thr
XM_011510555.1:c.3059T>C (COL4A3)	XP_011508857.1:p.Met1020Thr
XM_011510556.1:c.1820T>C (COL4A3)	XP_011508858.1:p.Met607Thr
XM_011510556.2:c.1820T>C (COL4A3)	XP_011508858.1:p.Met607Thr
XM_017003295.1:c.3059T>C (COL4A3)	XP_016858784.1:p.Met1020Thr
XR_001738601.1:n.3197T>C (COL4A3)
XR_241280.2:n.3197T>C (COL4A3)
XR_241280.3:n.3197T>C (COL4A3)