Canonical Allele Identifier: CA350866696

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311784A>C , CM000664.2:g.227311784A>C	GRCh38
NC_000002.11:g.228176500A>C , CM000664.1:g.228176500A>C	GRCh37
NC_000002.10:g.227884744A>C	NCBI36
NG_011591.1:g.152220A>C , LRG_230:g.152220A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.4929-2A>C (COL4A3) MANE Select	NP_000082.2:n.4929-2A>C
ENST00000396578.8:c.4929-2A>C (COL4A3) MANE Select	ENSP00000379823.3:n.4929-2A>C
NM_000091.4:c.4929-2A>C , LRG_230t1:c.4929-2A>C (COL4A3)	NP_000082.2:n.4929-2A>C
NR_102371.1:n.48-6129T>G (MFF-DT)
ENST00000396578.7:c.4929-2A>C (COL4A3)	ENSP00000379823.3:n.4929-2A>C
ENST00000469504.1:n.437-2A>C (COL4A3)
ENST00000469504.2:c.722-2A>C (COL4A3)	ENSP00000493493.1:n.722-2A>C
ENST00000471862.2:n.2187-2A>C (COL4A3)
ENST00000643388.1:c.442-2A>C (COL4A3)	ENSP00000495177.1:n.442-2A>C
ENST00000682257.1:n.151-2A>C (COL4A3)
ENST00000682970.1:n.227-2A>C (COL4A3)
ENST00000683077.1:n.1868-2A>C (COL4A3)
ENST00000684413.1:n.2496-2A>C (COL4A3)
ENST00000684724.1:n.350-2A>C (COL4A3)
XM_005246276.2:c.4756-2A>C (COL4A3)	XP_005246333.1:n.4756-2A>C
XM_005246277.2:c.4824-2A>C (COL4A3)	XP_005246334.1:n.4824-2A>C
XM_005246277.3:c.4824-2A>C (COL4A3)	XP_005246334.1:n.4824-2A>C
XM_011510556.1:c.3690-2A>C (COL4A3)	XP_011508858.1:n.3690-2A>C
XM_011510556.2:c.3690-2A>C (COL4A3)	XP_011508858.1:n.3690-2A>C
XR_241280.2:n.4889-2A>C (COL4A3)
XR_241280.3:n.4889-2A>C (COL4A3)