Canonical Allele Identifier: CA2147704

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 974509
• ClinVar RCV Id: RCV001316984 ; RCV001281281 ; RCV001836251
• dbSNP Id: rs759583948
• ExAC: 2:228176569 A / G
• gnomAD v2: 2-228176569-A-G
• gnomAD v3: 2-227311853-A-G
• gnomAD v4: 2-227311853-A-G
• MyVariant Identifiers: chr2:g.228176569A>G (hg19) ; chr2:g.227311853A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311853A>G , CM000664.2:g.227311853A>G	GRCh38
NC_000002.11:g.228176569A>G , CM000664.1:g.228176569A>G	GRCh37
NC_000002.10:g.227884813A>G	NCBI36
NG_011591.1:g.152289A>G , LRG_230:g.152289A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2254A>G (COL4A3)
ENST00000682257.1:n.218A>G (COL4A3)
ENST00000682970.1:n.294A>G (COL4A3)
ENST00000683077.1:n.1935A>G (COL4A3)
ENST00000684413.1:n.2563A>G (COL4A3)
ENST00000684724.1:n.417A>G (COL4A3)
ENST00000396578.8:c.4996A>G (COL4A3) MANE Select	ENSP00000379823.3:p.Met1666Val
ENST00000469504.2:c.789A>G (COL4A3)	ENSP00000493493.1:n.789A>G
ENST00000643388.1:c.509A>G (COL4A3)	ENSP00000495177.1:p.His170Arg
ENST00000396578.7:c.4996A>G (COL4A3)	ENSP00000379823.3:p.Met1666Val
ENST00000469504.1:n.504A>G (COL4A3)
NM_000091.4:c.4996A>G , LRG_230t1:c.4996A>G (COL4A3)	NP_000082.2:p.Met1666Val
NR_102371.1:n.48-6198T>C (MFF-DT)
XM_005246276.2:c.4823A>G (COL4A3)	XP_005246333.1:p.His1608Arg
XM_005246277.2:c.4891A>G (COL4A3)	XP_005246334.1:p.Met1631Val
XM_011510556.1:c.3757A>G (COL4A3)	XP_011508858.1:p.Met1253Val
XR_241280.2:n.4956A>G (COL4A3)
XM_005246277.3:c.4891A>G (COL4A3)	XP_005246334.1:p.Met1631Val
XM_011510556.2:c.3757A>G (COL4A3)	XP_011508858.1:p.Met1253Val
XR_241280.3:n.4956A>G (COL4A3)
NM_000091.5:c.4996A>G (COL4A3) MANE Select	NP_000082.2:p.Met1666Val