Canonical Allele Identifier: CA350866800

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228176546T>A (hg19) ; chr2:g.227311830T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311830T>A , CM000664.2:g.227311830T>A	GRCh38
NC_000002.11:g.228176546T>A , CM000664.1:g.228176546T>A	GRCh37
NC_000002.10:g.227884790T>A	NCBI36
NG_011591.1:g.152266T>A , LRG_230:g.152266T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2231T>A (COL4A3)
ENST00000682257.1:n.195T>A (COL4A3)
ENST00000682970.1:n.271T>A (COL4A3)
ENST00000683077.1:n.1912T>A (COL4A3)
ENST00000684413.1:n.2540T>A (COL4A3)
ENST00000684724.1:n.394T>A (COL4A3)
ENST00000396578.8:c.4973T>A (COL4A3) MANE Select	ENSP00000379823.3:p.Ile1658Lys
ENST00000469504.2:c.766T>A (COL4A3)	ENSP00000493493.1:n.766T>A
ENST00000643388.1:c.486T>A (COL4A3)	ENSP00000495177.1:p.Asn162Lys
ENST00000396578.7:c.4973T>A (COL4A3)	ENSP00000379823.3:p.Ile1658Lys
ENST00000469504.1:n.481T>A (COL4A3)
NM_000091.4:c.4973T>A , LRG_230t1:c.4973T>A (COL4A3)	NP_000082.2:p.Ile1658Lys
NR_102371.1:n.48-6175A>T (MFF-DT)
XM_005246276.2:c.4800T>A (COL4A3)	XP_005246333.1:p.Asn1600Lys
XM_005246277.2:c.4868T>A (COL4A3)	XP_005246334.1:p.Ile1623Lys
XM_011510556.1:c.3734T>A (COL4A3)	XP_011508858.1:p.Ile1245Lys
XR_241280.2:n.4933T>A (COL4A3)
XM_005246277.3:c.4868T>A (COL4A3)	XP_005246334.1:p.Ile1623Lys
XM_011510556.2:c.3734T>A (COL4A3)	XP_011508858.1:p.Ile1245Lys
XR_241280.3:n.4933T>A (COL4A3)
NM_000091.5:c.4973T>A (COL4A3) MANE Select	NP_000082.2:p.Ile1658Lys