Canonical Allele Identifier: CA1043061743

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs1388352913
• gnomAD v3: 2-227280749-G-A
• gnomAD v4: 2-227280749-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227280749G>A , CM000664.2:g.227280749G>A	GRCh38
NC_000002.11:g.228145465G>A , CM000664.1:g.228145465G>A	GRCh37
NC_000002.10:g.227853709G>A	NCBI36
NG_011591.1:g.121185G>A , LRG_230:g.121185G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.2375-144G>A (COL4A3) MANE Select	ENSP00000379823.3:n.2375-144G>A
ENST00000396578.7:c.2375-144G>A (COL4A3)	ENSP00000379823.3:n.2375-144G>A
NM_000091.4:c.2375-144G>A , LRG_230t1:c.2375-144G>A (COL4A3)	NP_000082.2:n.2375-144G>A
NR_102371.1:n.329+955C>T (MFF-DT)
XM_005246276.2:c.2375-144G>A (COL4A3)	XP_005246333.1:n.2375-144G>A
XM_005246277.2:c.2270-144G>A (COL4A3)	XP_005246334.1:n.2270-144G>A
XM_005246280.2:c.2375-144G>A (COL4A3)	XP_005246337.1:n.2375-144G>A
XM_006712245.2:c.2375-144G>A (COL4A3)	XP_006712308.1:n.2375-144G>A
XM_011510555.1:c.2375-144G>A (COL4A3)	XP_011508857.1:n.2375-144G>A
XM_011510556.1:c.1136-144G>A (COL4A3)	XP_011508858.1:n.1136-144G>A
XR_241280.2:n.2513-144G>A (COL4A3)
XM_005246277.3:c.2270-144G>A (COL4A3)	XP_005246334.1:n.2270-144G>A
XM_005246280.3:c.2375-144G>A (COL4A3)	XP_005246337.1:n.2375-144G>A
XM_006712245.3:c.2375-144G>A (COL4A3)	XP_006712308.1:n.2375-144G>A
XM_011510556.2:c.1136-144G>A (COL4A3)	XP_011508858.1:n.1136-144G>A
XM_017003295.1:c.2375-144G>A (COL4A3)	XP_016858784.1:n.2375-144G>A
XR_001738601.1:n.2513-144G>A (COL4A3)
XR_241280.3:n.2513-144G>A (COL4A3)
NM_000091.5:c.2375-144G>A (COL4A3) MANE Select	NP_000082.2:n.2375-144G>A