Canonical Allele Identifier: CA350866731

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228176515T>C (hg19) ; chr2:g.227311799T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311799T>C , CM000664.2:g.227311799T>C	GRCh38
NC_000002.11:g.228176515T>C , CM000664.1:g.228176515T>C	GRCh37
NC_000002.10:g.227884759T>C	NCBI36
NG_011591.1:g.152235T>C , LRG_230:g.152235T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2200T>C (COL4A3)
ENST00000682257.1:n.164T>C (COL4A3)
ENST00000682970.1:n.240T>C (COL4A3)
ENST00000683077.1:n.1881T>C (COL4A3)
ENST00000684413.1:n.2509T>C (COL4A3)
ENST00000684724.1:n.363T>C (COL4A3)
ENST00000396578.8:c.4942T>C (COL4A3) MANE Select	ENSP00000379823.3:p.Ser1648Pro
ENST00000469504.2:c.735T>C (COL4A3)	ENSP00000493493.1:n.735T>C
ENST00000643388.1:c.455T>C (COL4A3)	ENSP00000495177.1:p.Ile152Thr
ENST00000396578.7:c.4942T>C (COL4A3)	ENSP00000379823.3:p.Ser1648Pro
ENST00000469504.1:n.450T>C (COL4A3)
NM_000091.4:c.4942T>C , LRG_230t1:c.4942T>C (COL4A3)	NP_000082.2:p.Ser1648Pro
NR_102371.1:n.48-6144A>G (MFF-DT)
XM_005246276.2:c.4769T>C (COL4A3)	XP_005246333.1:p.Ile1590Thr
XM_005246277.2:c.4837T>C (COL4A3)	XP_005246334.1:p.Ser1613Pro
XM_011510556.1:c.3703T>C (COL4A3)	XP_011508858.1:p.Ser1235Pro
XR_241280.2:n.4902T>C (COL4A3)
XM_005246277.3:c.4837T>C (COL4A3)	XP_005246334.1:p.Ser1613Pro
XM_011510556.2:c.3703T>C (COL4A3)	XP_011508858.1:p.Ser1235Pro
XR_241280.3:n.4902T>C (COL4A3)
NM_000091.5:c.4942T>C (COL4A3) MANE Select	NP_000082.2:p.Ser1648Pro