Canonical Allele Identifier: CA658821652

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 554724
• ClinVar RCV Id: RCV000670405
• dbSNP Id: rs1553766929
• MyVariant Identifiers: chr2:g.228176549dup (hg19) ; chr2:g.227311833dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311833dup , CM000664.2:g.227311833dup	GRCh38
NC_000002.11:g.228176549dup , CM000664.1:g.228176549dup	GRCh37
NC_000002.10:g.227884793dup	NCBI36
NG_011591.1:g.152269dup , LRG_230:g.152269dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2234dup (COL4A3)
ENST00000682257.1:n.198dup (COL4A3)
ENST00000682970.1:n.274dup (COL4A3)
ENST00000683077.1:n.1915dup (COL4A3)
ENST00000684413.1:n.2543dup (COL4A3)
ENST00000684724.1:n.397dup (COL4A3)
ENST00000396578.8:c.4976dup (COL4A3) MANE Select	ENSP00000379823.3:p.Ser1660LysfsTer?
ENST00000469504.2:c.769dup (COL4A3)	ENSP00000493493.1:n.769dup
ENST00000643388.1:c.489dup (COL4A3)	ENSP00000495177.1:p.Lys164Ter
ENST00000396578.7:c.4976dup (COL4A3)	ENSP00000379823.3:p.Ser1660LysfsTer?
ENST00000469504.1:n.484dup (COL4A3)
NM_000091.4:c.4976dup , LRG_230t1:c.4976dup (COL4A3)	NP_000082.2:p.Ser1660LysfsTer?
NR_102371.1:n.48-6178dup (MFF-DT)
XM_005246276.2:c.4803dup (COL4A3)	XP_005246333.1:p.Lys1602Ter
XM_005246277.2:c.4871dup (COL4A3)	XP_005246334.1:p.Ser1625LysfsTer?
XM_011510556.1:c.3737dup (COL4A3)	XP_011508858.1:p.Ser1247LysfsTer?
XR_241280.2:n.4936dup (COL4A3)
XM_005246277.3:c.4871dup (COL4A3)	XP_005246334.1:p.Ser1625LysfsTer?
XM_011510556.2:c.3737dup (COL4A3)	XP_011508858.1:p.Ser1247LysfsTer?
XR_241280.3:n.4936dup (COL4A3)
NM_000091.5:c.4976dup (COL4A3) MANE Select	NP_000082.2:p.Ser1660LysfsTer?