Canonical Allele Identifier: CA2147568
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 499789
dbSNP Id: rs201671013

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227308946T>C , CM000664.2:g.227308946T>C GRCh38
NC_000002.11:g.228173662T>C , CM000664.1:g.228173662T>C GRCh37
NC_000002.10:g.227881906T>C NCBI36
NG_011591.1:g.149382T>C , LRG_230:g.149382T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000471862.2:n.1768T>C (COL4A3)
ENST00000684413.1:n.1950T>C (COL4A3)
ENST00000396578.8:c.4510T>C (COL4A3) MANE Select ENSP00000379823.3:p.Phe1504Leu
ENST00000469504.2:c.434-258T>C (COL4A3) ENSP00000493493.1:n.434-258T>C
ENST00000643388.1:c.196T>C (COL4A3) ENSP00000495177.1:p.Phe66Leu
ENST00000396578.7:c.4510T>C (COL4A3) ENSP00000379823.3:p.Phe1504Leu
ENST00000469504.1:n.149-258T>C (COL4A3)
NM_000091.4:c.4510T>C , LRG_230t1:c.4510T>C (COL4A3) NP_000082.2:p.Phe1504Leu
NR_102371.1:n.48-3291A>G (MFF-DT)
XM_005246276.2:c.4510T>C (COL4A3) XP_005246333.1:p.Phe1504Leu
XM_005246277.2:c.4405T>C (COL4A3) XP_005246334.1:p.Phe1469Leu
XM_011510555.1:c.4510T>C (COL4A3) XP_011508857.1:p.Phe1504Leu
XM_011510556.1:c.3271T>C (COL4A3) XP_011508858.1:p.Phe1091Leu
XR_241280.2:n.4601-258T>C (COL4A3)
XM_005246277.3:c.4405T>C (COL4A3) XP_005246334.1:p.Phe1469Leu
XM_011510556.2:c.3271T>C (COL4A3) XP_011508858.1:p.Phe1091Leu
XR_241280.3:n.4601-258T>C (COL4A3)
NM_000091.5:c.4510T>C (COL4A3) MANE Select NP_000082.2:p.Phe1504Leu