Canonical Allele Identifier: CA2146321

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227253565T>C , CM000664.2:g.227253565T>C	GRCh38
NC_000002.11:g.228118281T>C , CM000664.1:g.228118281T>C	GRCh37
NC_000002.10:g.227826525T>C	NCBI36
NG_011591.1:g.94001T>C , LRG_230:g.94001T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.692T>C (COL4A3) MANE Select	NP_000082.2:p.Val231Ala
ENST00000396578.8:c.692T>C (COL4A3) MANE Select	ENSP00000379823.3:p.Val231Ala
NM_000091.4:c.692T>C , LRG_230t1:c.692T>C (COL4A3)	NP_000082.2:p.Val231Ala
NR_102371.1:n.1592+5613A>G (MFF-DT)
ENST00000396578.7:c.692T>C (COL4A3)	ENSP00000379823.3:p.Val231Ala
XM_005246276.2:c.692T>C (COL4A3)	XP_005246333.1:p.Val231Ala
XM_005246277.2:c.692T>C (COL4A3)	XP_005246334.1:p.Val231Ala
XM_005246277.3:c.692T>C (COL4A3)	XP_005246334.1:p.Val231Ala
XM_005246280.2:c.692T>C (COL4A3)	XP_005246337.1:p.Val231Ala
XM_005246280.3:c.692T>C (COL4A3)	XP_005246337.1:p.Val231Ala
XM_006712245.2:c.692T>C (COL4A3)	XP_006712308.1:p.Val231Ala
XM_006712245.3:c.692T>C (COL4A3)	XP_006712308.1:p.Val231Ala
XM_011510555.1:c.692T>C (COL4A3)	XP_011508857.1:p.Val231Ala
XM_017003295.1:c.692T>C (COL4A3)	XP_016858784.1:p.Val231Ala
XR_001738601.1:n.830T>C (COL4A3)
XR_241280.2:n.830T>C (COL4A3)
XR_241280.3:n.830T>C (COL4A3)