Canonical Allele Identifier: CA1332862012
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Linked Data

dbSNP Id: rs2073640372

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227309192T>A , CM000664.2:g.227309192T>A GRCh38
NC_000002.11:g.228173908T>A , CM000664.1:g.228173908T>A GRCh37
NC_000002.10:g.227882152T>A NCBI36
NG_011591.1:g.149628T>A , LRG_230:g.149628T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000471862.2:n.1899-12T>A (COL4A3)
ENST00000682257.1:n.24T>A (COL4A3)
ENST00000683077.1:n.123-12T>A (COL4A3)
ENST00000684413.1:n.2196T>A (COL4A3)
ENST00000684724.1:n.50T>A (COL4A3)
ENST00000396578.8:c.4641-12T>A (COL4A3) MANE Select ENSP00000379823.3:n.4641-12T>A
ENST00000469504.2:c.434-12T>A (COL4A3) ENSP00000493493.1:n.434-12T>A
ENST00000643388.1:c.327-12T>A (COL4A3) ENSP00000495177.1:n.327-12T>A
ENST00000396578.7:c.4641-12T>A (COL4A3) ENSP00000379823.3:n.4641-12T>A
ENST00000469504.1:n.149-12T>A (COL4A3)
NM_000091.4:c.4641-12T>A , LRG_230t1:c.4641-12T>A (COL4A3) NP_000082.2:n.4641-12T>A
NR_102371.1:n.48-3537A>T (MFF-DT)
XM_005246276.2:c.4641-12T>A (COL4A3) XP_005246333.1:n.4641-12T>A
XM_005246277.2:c.4536-12T>A (COL4A3) XP_005246334.1:n.4536-12T>A
XM_011510555.1:c.4641-12T>A (COL4A3) XP_011508857.1:n.4641-12T>A
XM_011510556.1:c.3402-12T>A (COL4A3) XP_011508858.1:n.3402-12T>A
XR_241280.2:n.4601-12T>A (COL4A3)
XM_005246277.3:c.4536-12T>A (COL4A3) XP_005246334.1:n.4536-12T>A
XM_011510556.2:c.3402-12T>A (COL4A3) XP_011508858.1:n.3402-12T>A
XR_241280.3:n.4601-12T>A (COL4A3)
NM_000091.5:c.4641-12T>A (COL4A3) MANE Select NP_000082.2:n.4641-12T>A