Canonical Allele Identifier: CA350864298

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 985677
• ClinVar RCV Id: RCV001266707 ; RCV001386469 ; RCV001830069
• dbSNP Id: rs1189607438
• gnomAD v3: 2-227307805-C-T
• gnomAD v4: 2-227307805-C-T
• MyVariant Identifiers: chr2:g.228172521C>T (hg19) ; chr2:g.227307805C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227307805C>T , CM000664.2:g.227307805C>T	GRCh38
NC_000002.11:g.228172521C>T , CM000664.1:g.228172521C>T	GRCh37
NC_000002.10:g.227880765C>T	NCBI36
NG_011591.1:g.148241C>T , LRG_230:g.148241C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.1606C>T (COL4A3)
ENST00000684413.1:n.809C>T (COL4A3)
ENST00000396578.8:c.4348C>T (COL4A3) MANE Select	ENSP00000379823.3:p.Arg1450Ter
ENST00000469504.2:c.319C>T (COL4A3)	ENSP00000493493.1:p.Arg107Ter
ENST00000643388.1:c.34C>T (COL4A3)	ENSP00000495177.1:p.Arg12Ter
ENST00000396578.7:c.4348C>T (COL4A3)	ENSP00000379823.3:p.Arg1450Ter
ENST00000469504.1:n.34C>T (COL4A3)
NM_000091.4:c.4348C>T , LRG_230t1:c.4348C>T (COL4A3)	NP_000082.2:p.Arg1450Ter
NR_102371.1:n.48-2150G>A (MFF-DT)
XM_005246276.2:c.4348C>T (COL4A3)	XP_005246333.1:p.Arg1450Ter
XM_005246277.2:c.4243C>T (COL4A3)	XP_005246334.1:p.Arg1415Ter
XM_011510555.1:c.4348C>T (COL4A3)	XP_011508857.1:p.Arg1450Ter
XM_011510556.1:c.3109C>T (COL4A3)	XP_011508858.1:p.Arg1037Ter
XR_241280.2:n.4486C>T (COL4A3)
XM_005246277.3:c.4243C>T (COL4A3)	XP_005246334.1:p.Arg1415Ter
XM_011510556.2:c.3109C>T (COL4A3)	XP_011508858.1:p.Arg1037Ter
XR_241280.3:n.4486C>T (COL4A3)
NM_000091.5:c.4348C>T (COL4A3) MANE Select	NP_000082.2:p.Arg1450Ter