Canonical Allele Identifier: CA2147600

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs200655479
• ExAC: 2:228173928 T / C
• gnomAD v2: 2-228173928-T-C
• gnomAD v4: 2-227309212-T-C
• MyVariant Identifiers: chr2:g.228173928T>C (hg19) ; chr2:g.227309212T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309212T>C , CM000664.2:g.227309212T>C	GRCh38
NC_000002.11:g.228173928T>C , CM000664.1:g.228173928T>C	GRCh37
NC_000002.10:g.227882172T>C	NCBI36
NG_011591.1:g.149648T>C , LRG_230:g.149648T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1907T>C (COL4A3)
ENST00000682257.1:n.44T>C (COL4A3)
ENST00000683077.1:n.131T>C (COL4A3)
ENST00000684413.1:n.2216T>C (COL4A3)
ENST00000684724.1:n.70T>C (COL4A3)
ENST00000396578.8:c.4649T>C (COL4A3) MANE Select	ENSP00000379823.3:p.Val1550Ala
ENST00000469504.2:c.442T>C (COL4A3)	ENSP00000493493.1:p.Phe148Leu
ENST00000643388.1:c.335T>C (COL4A3)	ENSP00000495177.1:p.Val112Ala
ENST00000396578.7:c.4649T>C (COL4A3)	ENSP00000379823.3:p.Val1550Ala
ENST00000469504.1:n.157T>C (COL4A3)
NM_000091.4:c.4649T>C , LRG_230t1:c.4649T>C (COL4A3)	NP_000082.2:p.Val1550Ala
NR_102371.1:n.48-3557A>G (MFF-DT)
XM_005246276.2:c.4649T>C (COL4A3)	XP_005246333.1:p.Val1550Ala
XM_005246277.2:c.4544T>C (COL4A3)	XP_005246334.1:p.Val1515Ala
XM_011510555.1:c.4649T>C (COL4A3)	XP_011508857.1:p.Val1550Ala
XM_011510556.1:c.3410T>C (COL4A3)	XP_011508858.1:p.Val1137Ala
XR_241280.2:n.4609T>C (COL4A3)
XM_005246277.3:c.4544T>C (COL4A3)	XP_005246334.1:p.Val1515Ala
XM_011510556.2:c.3410T>C (COL4A3)	XP_011508858.1:p.Val1137Ala
XR_241280.3:n.4609T>C (COL4A3)
NM_000091.5:c.4649T>C (COL4A3) MANE Select	NP_000082.2:p.Val1550Ala