Canonical Allele Identifier: CA350861825

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs1185966176
• gnomAD v2: 2-228111437-G-A
• gnomAD v4: 2-227246721-G-A
• MyVariant Identifiers: chr2:g.228111437G>A (hg19) ; chr2:g.227246721G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227246721G>A , CM000664.2:g.227246721G>A	GRCh38
NC_000002.11:g.228111437G>A , CM000664.1:g.228111437G>A	GRCh37
NC_000002.10:g.227819681G>A	NCBI36
NG_011591.1:g.87157G>A , LRG_230:g.87157G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000396578.8:c.424G>A (COL4A3) MANE Select	ENSP00000379823.3:p.Gly142Ser
ENST00000396578.7:c.424G>A (COL4A3)	ENSP00000379823.3:p.Gly142Ser
NM_000091.4:c.424G>A , LRG_230t1:c.424G>A (COL4A3)	NP_000082.2:p.Gly142Ser
NR_102371.1:n.1593-8547C>T (MFF-DT)
XM_005246276.2:c.424G>A (COL4A3)	XP_005246333.1:p.Gly142Ser
XM_005246277.2:c.424G>A (COL4A3)	XP_005246334.1:p.Gly142Ser
XM_005246280.2:c.424G>A (COL4A3)	XP_005246337.1:p.Gly142Ser
XM_006712245.2:c.424G>A (COL4A3)	XP_006712308.1:p.Gly142Ser
XM_011510555.1:c.424G>A (COL4A3)	XP_011508857.1:p.Gly142Ser
XR_241280.2:n.562G>A (COL4A3)
XM_005246277.3:c.424G>A (COL4A3)	XP_005246334.1:p.Gly142Ser
XM_005246280.3:c.424G>A (COL4A3)	XP_005246337.1:p.Gly142Ser
XM_006712245.3:c.424G>A (COL4A3)	XP_006712308.1:p.Gly142Ser
XM_017003295.1:c.424G>A (COL4A3)	XP_016858784.1:p.Gly142Ser
XR_001738601.1:n.562G>A (COL4A3)
XR_241280.3:n.562G>A (COL4A3)
NM_000091.5:c.424G>A (COL4A3) MANE Select	NP_000082.2:p.Gly142Ser