Canonical Allele Identifier: CA431663787

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 1077514
• ClinVar RCV Id: RCV001392094
• dbSNP Id: rs2106288256
• gnomAD v4: 2-227308963-T-C
• MyVariant Identifiers: chr2:g.228173679T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227308963T>C , CM000664.2:g.227308963T>C	GRCh38
NC_000002.11:g.228173679T>C , CM000664.1:g.228173679T>C	GRCh37
NC_000002.10:g.227881923T>C	NCBI36
NG_011591.1:g.149399T>C , LRG_230:g.149399T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1785T>C (COL4A3)
ENST00000683077.1:n.9T>C (COL4A3)
ENST00000684413.1:n.1967T>C (COL4A3)
ENST00000396578.8:c.4527T>C (COL4A3) MANE Select	ENSP00000379823.3:p.Asp1509=
ENST00000469504.2:c.434-241T>C (COL4A3)	ENSP00000493493.1:n.434-241T>C
ENST00000643388.1:c.213T>C (COL4A3)	ENSP00000495177.1:p.Asp71=
ENST00000396578.7:c.4527T>C (COL4A3)	ENSP00000379823.3:p.Asp1509=
ENST00000469504.1:n.149-241T>C (COL4A3)
NM_000091.4:c.4527T>C , LRG_230t1:c.4527T>C (COL4A3)	NP_000082.2:p.Asp1509=
NR_102371.1:n.48-3308A>G (MFF-DT)
XM_005246276.2:c.4527T>C (COL4A3)	XP_005246333.1:p.Asp1509=
XM_005246277.2:c.4422T>C (COL4A3)	XP_005246334.1:p.Asp1474=
XM_011510555.1:c.4527T>C (COL4A3)	XP_011508857.1:p.Asp1509=
XM_011510556.1:c.3288T>C (COL4A3)	XP_011508858.1:p.Asp1096=
XR_241280.2:n.4601-241T>C (COL4A3)
XM_005246277.3:c.4422T>C (COL4A3)	XP_005246334.1:p.Asp1474=
XM_011510556.2:c.3288T>C (COL4A3)	XP_011508858.1:p.Asp1096=
XR_241280.3:n.4601-241T>C (COL4A3)
NM_000091.5:c.4527T>C (COL4A3) MANE Select	NP_000082.2:p.Asp1509=