Canonical Allele Identifier: CA350866105

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227310832C>A , CM000664.2:g.227310832C>A	GRCh38
NC_000002.11:g.228175548C>A , CM000664.1:g.228175548C>A	GRCh37
NC_000002.10:g.227883792C>A	NCBI36
NG_011591.1:g.151268C>A , LRG_230:g.151268C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.4812C>A (COL4A3) MANE Select	NP_000082.2:p.Cys1604Ter
ENST00000396578.8:c.4812C>A (COL4A3) MANE Select	ENSP00000379823.3:p.Cys1604Ter
NM_000091.4:c.4812C>A , LRG_230t1:c.4812C>A (COL4A3)	NP_000082.2:p.Cys1604Ter
NR_102371.1:n.48-5177G>T (MFF-DT)
ENST00000396578.7:c.4812C>A (COL4A3)	ENSP00000379823.3:p.Cys1604Ter
ENST00000469504.1:n.320C>A (COL4A3)
ENST00000469504.2:c.605C>A (COL4A3)	ENSP00000493493.1:n.605C>A
ENST00000471862.2:n.2070C>A (COL4A3)
ENST00000643388.1:c.442-954C>A (COL4A3)	ENSP00000495177.1:n.442-954C>A
ENST00000682257.1:n.151-954C>A (COL4A3)
ENST00000682970.1:n.110C>A (COL4A3)
ENST00000683077.1:n.1751C>A (COL4A3)
ENST00000684413.1:n.2379C>A (COL4A3)
ENST00000684724.1:n.233C>A (COL4A3)
XM_005246276.2:c.4756-954C>A (COL4A3)	XP_005246333.1:n.4756-954C>A
XM_005246277.2:c.4707C>A (COL4A3)	XP_005246334.1:p.Cys1569Ter
XM_005246277.3:c.4707C>A (COL4A3)	XP_005246334.1:p.Cys1569Ter
XM_011510555.1:c.4799C>A (COL4A3)	XP_011508857.1:p.Ala1600Asp
XM_011510556.1:c.3573C>A (COL4A3)	XP_011508858.1:p.Cys1191Ter
XM_011510556.2:c.3573C>A (COL4A3)	XP_011508858.1:p.Cys1191Ter
XR_241280.2:n.4772C>A (COL4A3)
XR_241280.3:n.4772C>A (COL4A3)