Canonical Allele Identifier: CA350851148

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 522432
• ClinVar RCV Id: RCV000625572 ; RCV003935738
• dbSNP Id: rs1553760558
• gnomAD v4: 2-227283794-G-A
• MyVariant Identifiers: chr2:g.228148510G>A (hg19) ; chr2:g.227283794G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227283794G>A , CM000664.2:g.227283794G>A	GRCh38
NC_000002.11:g.228148510G>A , CM000664.1:g.228148510G>A	GRCh37
NC_000002.10:g.227856754G>A	NCBI36
NG_011591.1:g.124230G>A , LRG_230:g.124230G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.2684G>A (COL4A3) MANE Select	ENSP00000379823.3:p.Gly895Asp
ENST00000396578.7:c.2684G>A (COL4A3)	ENSP00000379823.3:p.Gly895Asp
NM_000091.4:c.2684G>A , LRG_230t1:c.2684G>A (COL4A3)	NP_000082.2:p.Gly895Asp
NR_102371.1:n.244-2005C>T (MFF-DT)
XM_005246276.2:c.2684G>A (COL4A3)	XP_005246333.1:p.Gly895Asp
XM_005246277.2:c.2579G>A (COL4A3)	XP_005246334.1:p.Gly860Asp
XM_005246280.2:c.2684G>A (COL4A3)	XP_005246337.1:p.Gly895Asp
XM_006712245.2:c.2684G>A (COL4A3)	XP_006712308.1:p.Gly895Asp
XM_011510555.1:c.2684G>A (COL4A3)	XP_011508857.1:p.Gly895Asp
XM_011510556.1:c.1445G>A (COL4A3)	XP_011508858.1:p.Gly482Asp
XR_241280.2:n.2822G>A (COL4A3)
XM_005246277.3:c.2579G>A (COL4A3)	XP_005246334.1:p.Gly860Asp
XM_005246280.3:c.2684G>A (COL4A3)	XP_005246337.1:p.Gly895Asp
XM_006712245.3:c.2684G>A (COL4A3)	XP_006712308.1:p.Gly895Asp
XM_011510556.2:c.1445G>A (COL4A3)	XP_011508858.1:p.Gly482Asp
XM_017003295.1:c.2684G>A (COL4A3)	XP_016858784.1:p.Gly895Asp
XR_001738601.1:n.2822G>A (COL4A3)
XR_241280.3:n.2822G>A (COL4A3)
NM_000091.5:c.2684G>A (COL4A3) MANE Select	NP_000082.2:p.Gly895Asp