Canonical Allele Identifier: CA350866811

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228176552G>C (hg19) ; chr2:g.227311836G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311836G>C , CM000664.2:g.227311836G>C	GRCh38
NC_000002.11:g.228176552G>C , CM000664.1:g.228176552G>C	GRCh37
NC_000002.10:g.227884796G>C	NCBI36
NG_011591.1:g.152272G>C , LRG_230:g.152272G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2237G>C (COL4A3)
ENST00000682257.1:n.201G>C (COL4A3)
ENST00000682970.1:n.277G>C (COL4A3)
ENST00000683077.1:n.1918G>C (COL4A3)
ENST00000684413.1:n.2546G>C (COL4A3)
ENST00000684724.1:n.400G>C (COL4A3)
ENST00000396578.8:c.4979G>C (COL4A3) MANE Select	ENSP00000379823.3:p.Ser1660Thr
ENST00000469504.2:c.772G>C (COL4A3)	ENSP00000493493.1:n.772G>C
ENST00000643388.1:c.492G>C (COL4A3)	ENSP00000495177.1:p.Lys164Asn
ENST00000396578.7:c.4979G>C (COL4A3)	ENSP00000379823.3:p.Ser1660Thr
ENST00000469504.1:n.487G>C (COL4A3)
NM_000091.4:c.4979G>C , LRG_230t1:c.4979G>C (COL4A3)	NP_000082.2:p.Ser1660Thr
NR_102371.1:n.48-6181C>G (MFF-DT)
XM_005246276.2:c.4806G>C (COL4A3)	XP_005246333.1:p.Lys1602Asn
XM_005246277.2:c.4874G>C (COL4A3)	XP_005246334.1:p.Ser1625Thr
XM_011510556.1:c.3740G>C (COL4A3)	XP_011508858.1:p.Ser1247Thr
XR_241280.2:n.4939G>C (COL4A3)
XM_005246277.3:c.4874G>C (COL4A3)	XP_005246334.1:p.Ser1625Thr
XM_011510556.2:c.3740G>C (COL4A3)	XP_011508858.1:p.Ser1247Thr
XR_241280.3:n.4939G>C (COL4A3)
NM_000091.5:c.4979G>C (COL4A3) MANE Select	NP_000082.2:p.Ser1660Thr