Canonical Allele Identifier: CA539906632

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs1159266289
• gnomAD v2: 2-228173572-C-CT
• gnomAD v3: 2-227308856-C-CT
• gnomAD v4: 2-227308856-C-CT
• MyVariant Identifiers: chr2:g.228173572_228173573insT (hg19) ; chr2:g.227308856_227308857insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227308859dup , CM000664.2:g.227308859dup	GRCh38
NC_000002.11:g.228173575dup , CM000664.1:g.228173575dup	GRCh37
NC_000002.10:g.227881819dup	NCBI36
NG_011591.1:g.149295dup , LRG_230:g.149295dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1721-40dup (COL4A3)
ENST00000684413.1:n.1863dup (COL4A3)
ENST00000396578.8:c.4463-40dup (COL4A3) MANE Select	ENSP00000379823.3:n.4463-40dup
ENST00000469504.2:c.434-345dup (COL4A3)	ENSP00000493493.1:n.434-345dup
ENST00000643388.1:c.149-40dup (COL4A3)	ENSP00000495177.1:n.149-40dup
ENST00000396578.7:c.4463-40dup (COL4A3)	ENSP00000379823.3:n.4463-40dup
ENST00000469504.1:n.149-345dup (COL4A3)
NM_000091.4:c.4463-40dup , LRG_230t1:c.4463-40dup (COL4A3)	NP_000082.2:n.4463-40dup
NR_102371.1:n.48-3202dup (MFF-DT)
XM_005246276.2:c.4463-40dup (COL4A3)	XP_005246333.1:n.4463-40dup
XM_005246277.2:c.4358-40dup (COL4A3)	XP_005246334.1:n.4358-40dup
XM_011510555.1:c.4463-40dup (COL4A3)	XP_011508857.1:n.4463-40dup
XM_011510556.1:c.3224-40dup (COL4A3)	XP_011508858.1:n.3224-40dup
XR_241280.2:n.4601-345dup (COL4A3)
XM_005246277.3:c.4358-40dup (COL4A3)	XP_005246334.1:n.4358-40dup
XM_011510556.2:c.3224-40dup (COL4A3)	XP_011508858.1:n.3224-40dup
XR_241280.3:n.4601-345dup (COL4A3)
NM_000091.5:c.4463-40dup (COL4A3) MANE Select	NP_000082.2:n.4463-40dup