Canonical Allele Identifier: CA2697550539

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 2695064
• ClinVar RCV Id: RCV003541919

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227280873A>G , CM000664.2:g.227280873A>G	GRCh38
NC_000002.11:g.228145589A>G , CM000664.1:g.228145589A>G	GRCh37
NC_000002.10:g.227853833A>G	NCBI36
NG_011591.1:g.121309A>G , LRG_230:g.121309A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396578.8:c.2375-20A>G (COL4A3) MANE Select	ENSP00000379823.3:n.2375-20A>G
ENST00000396578.7:c.2375-20A>G (COL4A3)	ENSP00000379823.3:n.2375-20A>G
NM_000091.4:c.2375-20A>G , LRG_230t1:c.2375-20A>G (COL4A3)	NP_000082.2:n.2375-20A>G
NR_102371.1:n.329+831T>C (MFF-DT)
XM_005246276.2:c.2375-20A>G (COL4A3)	XP_005246333.1:n.2375-20A>G
XM_005246277.2:c.2270-20A>G (COL4A3)	XP_005246334.1:n.2270-20A>G
XM_005246280.2:c.2375-20A>G (COL4A3)	XP_005246337.1:n.2375-20A>G
XM_006712245.2:c.2375-20A>G (COL4A3)	XP_006712308.1:n.2375-20A>G
XM_011510555.1:c.2375-20A>G (COL4A3)	XP_011508857.1:n.2375-20A>G
XM_011510556.1:c.1136-20A>G (COL4A3)	XP_011508858.1:n.1136-20A>G
XR_241280.2:n.2513-20A>G (COL4A3)
XM_005246277.3:c.2270-20A>G (COL4A3)	XP_005246334.1:n.2270-20A>G
XM_005246280.3:c.2375-20A>G (COL4A3)	XP_005246337.1:n.2375-20A>G
XM_006712245.3:c.2375-20A>G (COL4A3)	XP_006712308.1:n.2375-20A>G
XM_011510556.2:c.1136-20A>G (COL4A3)	XP_011508858.1:n.1136-20A>G
XM_017003295.1:c.2375-20A>G (COL4A3)	XP_016858784.1:n.2375-20A>G
XR_001738601.1:n.2513-20A>G (COL4A3)
XR_241280.3:n.2513-20A>G (COL4A3)
NM_000091.5:c.2375-20A>G (COL4A3) MANE Select	NP_000082.2:n.2375-20A>G