Canonical Allele Identifier: CA350865323

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs1417837330
• gnomAD v2: 2-228173764-G-A
• gnomAD v4: 2-227309048-G-A
• MyVariant Identifiers: chr2:g.228173764G>A (hg19) ; chr2:g.227309048G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309048G>A , CM000664.2:g.227309048G>A	GRCh38
NC_000002.11:g.228173764G>A , CM000664.1:g.228173764G>A	GRCh37
NC_000002.10:g.227882008G>A	NCBI36
NG_011591.1:g.149484G>A , LRG_230:g.149484G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1870G>A (COL4A3)
ENST00000683077.1:n.94G>A (COL4A3)
ENST00000684413.1:n.2052G>A (COL4A3)
ENST00000684724.1:n.14G>A (COL4A3)
ENST00000396578.8:c.4612G>A (COL4A3) MANE Select	ENSP00000379823.3:p.Gly1538Ser
ENST00000469504.2:c.434-156G>A (COL4A3)	ENSP00000493493.1:n.434-156G>A
ENST00000643388.1:c.298G>A (COL4A3)	ENSP00000495177.1:p.Gly100Ser
ENST00000396578.7:c.4612G>A (COL4A3)	ENSP00000379823.3:p.Gly1538Ser
ENST00000469504.1:n.149-156G>A (COL4A3)
NM_000091.4:c.4612G>A , LRG_230t1:c.4612G>A (COL4A3)	NP_000082.2:p.Gly1538Ser
NR_102371.1:n.48-3393C>T (MFF-DT)
XM_005246276.2:c.4612G>A (COL4A3)	XP_005246333.1:p.Gly1538Ser
XM_005246277.2:c.4507G>A (COL4A3)	XP_005246334.1:p.Gly1503Ser
XM_011510555.1:c.4612G>A (COL4A3)	XP_011508857.1:p.Gly1538Ser
XM_011510556.1:c.3373G>A (COL4A3)	XP_011508858.1:p.Gly1125Ser
XR_241280.2:n.4601-156G>A (COL4A3)
XM_005246277.3:c.4507G>A (COL4A3)	XP_005246334.1:p.Gly1503Ser
XM_011510556.2:c.3373G>A (COL4A3)	XP_011508858.1:p.Gly1125Ser
XR_241280.3:n.4601-156G>A (COL4A3)
NM_000091.5:c.4612G>A (COL4A3) MANE Select	NP_000082.2:p.Gly1538Ser