Canonical Allele Identifier: CA431502673

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227280975-T-A
• MyVariant Identifiers: chr2:g.228145691T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227280975T>A , CM000664.2:g.227280975T>A	GRCh38
NC_000002.11:g.228145691T>A , CM000664.1:g.228145691T>A	GRCh37
NC_000002.10:g.227853935T>A	NCBI36
NG_011591.1:g.121411T>A , LRG_230:g.121411T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000396578.8:c.2457T>A (COL4A3) MANE Select	ENSP00000379823.3:p.Leu819=
ENST00000396578.7:c.2457T>A (COL4A3)	ENSP00000379823.3:p.Leu819=
NM_000091.4:c.2457T>A , LRG_230t1:c.2457T>A (COL4A3)	NP_000082.2:p.Leu819=
NR_102371.1:n.329+729A>T (MFF-DT)
XM_005246276.2:c.2457T>A (COL4A3)	XP_005246333.1:p.Leu819=
XM_005246277.2:c.2352T>A (COL4A3)	XP_005246334.1:p.Leu784=
XM_005246280.2:c.2457T>A (COL4A3)	XP_005246337.1:p.Leu819=
XM_006712245.2:c.2457T>A (COL4A3)	XP_006712308.1:p.Leu819=
XM_011510555.1:c.2457T>A (COL4A3)	XP_011508857.1:p.Leu819=
XM_011510556.1:c.1218T>A (COL4A3)	XP_011508858.1:p.Leu406=
XR_241280.2:n.2595T>A (COL4A3)
XM_005246277.3:c.2352T>A (COL4A3)	XP_005246334.1:p.Leu784=
XM_005246280.3:c.2457T>A (COL4A3)	XP_005246337.1:p.Leu819=
XM_006712245.3:c.2457T>A (COL4A3)	XP_006712308.1:p.Leu819=
XM_011510556.2:c.1218T>A (COL4A3)	XP_011508858.1:p.Leu406=
XM_017003295.1:c.2457T>A (COL4A3)	XP_016858784.1:p.Leu819=
XR_001738601.1:n.2595T>A (COL4A3)
XR_241280.3:n.2595T>A (COL4A3)
NM_000091.5:c.2457T>A (COL4A3) MANE Select	NP_000082.2:p.Leu819=