Canonical Allele Identifier: CA2147322

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227297780A>G , CM000664.2:g.227297780A>G	GRCh38
NC_000002.11:g.228162496A>G , CM000664.1:g.228162496A>G	GRCh37
NC_000002.10:g.227870740A>G	NCBI36
NG_011591.1:g.138216A>G , LRG_230:g.138216A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.3672A>G (COL4A3) MANE Select	NP_000082.2:p.Pro1224=
ENST00000396578.8:c.3672A>G (COL4A3) MANE Select	ENSP00000379823.3:p.Pro1224=
NM_000091.4:c.3672A>G , LRG_230t1:c.3672A>G (COL4A3)	NP_000082.2:p.Pro1224=
NR_102371.1:n.243+7680T>C (MFF-DT)
ENST00000396578.7:c.3672A>G (COL4A3)	ENSP00000379823.3:p.Pro1224=
ENST00000468753.5:n.335A>G (COL4A3)
ENST00000471862.1:n.90A>G (COL4A3)
ENST00000471862.2:n.90A>G (COL4A3)
XM_005246276.2:c.3672A>G (COL4A3)	XP_005246333.1:p.Pro1224=
XM_005246277.2:c.3567A>G (COL4A3)	XP_005246334.1:p.Pro1189=
XM_005246277.3:c.3567A>G (COL4A3)	XP_005246334.1:p.Pro1189=
XM_011510555.1:c.3672A>G (COL4A3)	XP_011508857.1:p.Pro1224=
XM_011510556.1:c.2433A>G (COL4A3)	XP_011508858.1:p.Pro811=
XM_011510556.2:c.2433A>G (COL4A3)	XP_011508858.1:p.Pro811=
XR_241280.2:n.3810A>G (COL4A3)
XR_241280.3:n.3810A>G (COL4A3)