Canonical Allele Identifier: CA2580066019

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227303992A>G , CM000664.2:g.227303992A>G	GRCh38
NC_000002.11:g.228168708A>G , CM000664.1:g.228168708A>G	GRCh37
NC_000002.10:g.227876952A>G	NCBI36
NG_011591.1:g.144428A>G , LRG_230:g.144428A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.4028-27A>G (COL4A3) MANE Select	NP_000082.2:n.4028-27A>G
ENST00000396578.8:c.4028-27A>G (COL4A3) MANE Select	ENSP00000379823.3:n.4028-27A>G
NM_000091.4:c.4028-27A>G , LRG_230t1:c.4028-27A>G (COL4A3)	NP_000082.2:n.4028-27A>G
NR_102371.1:n.243+1468T>C (MFF-DT)
ENST00000396578.7:c.4028-27A>G (COL4A3)	ENSP00000379823.3:n.4028-27A>G
ENST00000471862.1:n.446-27A>G (COL4A3)
ENST00000471862.2:n.446-27A>G (COL4A3)
XM_005246276.2:c.4028-27A>G (COL4A3)	XP_005246333.1:n.4028-27A>G
XM_005246277.2:c.3923-27A>G (COL4A3)	XP_005246334.1:n.3923-27A>G
XM_005246277.3:c.3923-27A>G (COL4A3)	XP_005246334.1:n.3923-27A>G
XM_011510555.1:c.4028-27A>G (COL4A3)	XP_011508857.1:n.4028-27A>G
XM_011510556.1:c.2789-27A>G (COL4A3)	XP_011508858.1:n.2789-27A>G
XM_011510556.2:c.2789-27A>G (COL4A3)	XP_011508858.1:n.2789-27A>G
XR_241280.2:n.4166-27A>G (COL4A3)
XR_241280.3:n.4166-27A>G (COL4A3)