Canonical Allele Identifier: CA2147574

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 799996
• ClinVar RCV Id: RCV000983624
• dbSNP Id: rs757897854
• ExAC: 2:228173724 A / C
• gnomAD v2: 2-228173724-A-C
• gnomAD v4: 2-227309008-A-C
• MyVariant Identifiers: chr2:g.228173724A>C (hg19) ; chr2:g.227309008A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309008A>C , CM000664.2:g.227309008A>C	GRCh38
NC_000002.11:g.228173724A>C , CM000664.1:g.228173724A>C	GRCh37
NC_000002.10:g.227881968A>C	NCBI36
NG_011591.1:g.149444A>C , LRG_230:g.149444A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1830A>C (COL4A3)
ENST00000683077.1:n.54A>C (COL4A3)
ENST00000684413.1:n.2012A>C (COL4A3)
ENST00000396578.8:c.4572A>C (COL4A3) MANE Select	ENSP00000379823.3:p.Ser1524=
ENST00000469504.2:c.434-196A>C (COL4A3)	ENSP00000493493.1:n.434-196A>C
ENST00000643388.1:c.258A>C (COL4A3)	ENSP00000495177.1:p.Ser86=
ENST00000396578.7:c.4572A>C (COL4A3)	ENSP00000379823.3:p.Ser1524=
ENST00000469504.1:n.149-196A>C (COL4A3)
NM_000091.4:c.4572A>C , LRG_230t1:c.4572A>C (COL4A3)	NP_000082.2:p.Ser1524=
NR_102371.1:n.48-3353T>G (MFF-DT)
XM_005246276.2:c.4572A>C (COL4A3)	XP_005246333.1:p.Ser1524=
XM_005246277.2:c.4467A>C (COL4A3)	XP_005246334.1:p.Ser1489=
XM_011510555.1:c.4572A>C (COL4A3)	XP_011508857.1:p.Ser1524=
XM_011510556.1:c.3333A>C (COL4A3)	XP_011508858.1:p.Ser1111=
XR_241280.2:n.4601-196A>C (COL4A3)
XM_005246277.3:c.4467A>C (COL4A3)	XP_005246334.1:p.Ser1489=
XM_011510556.2:c.3333A>C (COL4A3)	XP_011508858.1:p.Ser1111=
XR_241280.3:n.4601-196A>C (COL4A3)
NM_000091.5:c.4572A>C (COL4A3) MANE Select	NP_000082.2:p.Ser1524=