Canonical Allele Identifier: CA66623504

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs75042602
• gnomAD v3: 2-227311833-T-C
• gnomAD v4: 2-227311833-T-C
• MyVariant Identifiers: chr2:g.228176549T>C (hg19) ; chr2:g.227311833T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2234T>C (COL4A3)
ENST00000682257.1:n.198T>C (COL4A3)
ENST00000682970.1:n.274T>C (COL4A3)
ENST00000683077.1:n.1915T>C (COL4A3)
ENST00000684413.1:n.2543T>C (COL4A3)
ENST00000684724.1:n.397T>C (COL4A3)
ENST00000396578.8:c.4976T>C (COL4A3) MANE Select	ENSP00000379823.3:p.Ile1659Thr
ENST00000469504.2:c.769T>C (COL4A3)	ENSP00000493493.1:n.769T>C
ENST00000643388.1:c.489T>C (COL4A3)	ENSP00000495177.1:p.Asn163=
ENST00000396578.7:c.4976T>C (COL4A3)	ENSP00000379823.3:p.Ile1659Thr
ENST00000469504.1:n.484T>C (COL4A3)
NM_000091.4:c.4976T>C , LRG_230t1:c.4976T>C (COL4A3)	NP_000082.2:p.Ile1659Thr
NR_102371.1:n.48-6178A>G (MFF-DT)
XM_005246276.2:c.4803T>C (COL4A3)	XP_005246333.1:p.Asn1601=
XM_005246277.2:c.4871T>C (COL4A3)	XP_005246334.1:p.Ile1624Thr
XM_011510556.1:c.3737T>C (COL4A3)	XP_011508858.1:p.Ile1246Thr
XR_241280.2:n.4936T>C (COL4A3)
XM_005246277.3:c.4871T>C (COL4A3)	XP_005246334.1:p.Ile1624Thr
XM_011510556.2:c.3737T>C (COL4A3)	XP_011508858.1:p.Ile1246Thr
XR_241280.3:n.4936T>C (COL4A3)
NM_000091.5:c.4976T>C (COL4A3) MANE Select	NP_000082.2:p.Ile1659Thr