Canonical Allele Identifier: CA350849576

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227280976-C-T
• COSMIC: COSM6442136 ; COSM6442137
• MyVariant Identifiers: chr2:g.228145692C>T (hg19) ; chr2:g.227280976C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227280976C>T , CM000664.2:g.227280976C>T	GRCh38
NC_000002.11:g.228145692C>T , CM000664.1:g.228145692C>T	GRCh37
NC_000002.10:g.227853936C>T	NCBI36
NG_011591.1:g.121412C>T , LRG_230:g.121412C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396578.8:c.2458C>T (COL4A3) MANE Select	ENSP00000379823.3:p.Pro820Ser
ENST00000396578.7:c.2458C>T (COL4A3)	ENSP00000379823.3:p.Pro820Ser
NM_000091.4:c.2458C>T , LRG_230t1:c.2458C>T (COL4A3)	NP_000082.2:p.Pro820Ser
NR_102371.1:n.329+728G>A (MFF-DT)
XM_005246276.2:c.2458C>T (COL4A3)	XP_005246333.1:p.Pro820Ser
XM_005246277.2:c.2353C>T (COL4A3)	XP_005246334.1:p.Pro785Ser
XM_005246280.2:c.2458C>T (COL4A3)	XP_005246337.1:p.Pro820Ser
XM_006712245.2:c.2458C>T (COL4A3)	XP_006712308.1:p.Pro820Ser
XM_011510555.1:c.2458C>T (COL4A3)	XP_011508857.1:p.Pro820Ser
XM_011510556.1:c.1219C>T (COL4A3)	XP_011508858.1:p.Pro407Ser
XR_241280.2:n.2596C>T (COL4A3)
XM_005246277.3:c.2353C>T (COL4A3)	XP_005246334.1:p.Pro785Ser
XM_005246280.3:c.2458C>T (COL4A3)	XP_005246337.1:p.Pro820Ser
XM_006712245.3:c.2458C>T (COL4A3)	XP_006712308.1:p.Pro820Ser
XM_011510556.2:c.1219C>T (COL4A3)	XP_011508858.1:p.Pro407Ser
XM_017003295.1:c.2458C>T (COL4A3)	XP_016858784.1:p.Pro820Ser
XR_001738601.1:n.2596C>T (COL4A3)
XR_241280.3:n.2596C>T (COL4A3)
NM_000091.5:c.2458C>T (COL4A3) MANE Select	NP_000082.2:p.Pro820Ser