Canonical Allele Identifier: CA1332862001
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Linked Data

dbSNP Id: rs1574842039

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227309168T>G , CM000664.2:g.227309168T>G GRCh38
NC_000002.11:g.228173884T>G , CM000664.1:g.228173884T>G GRCh37
NC_000002.10:g.227882128T>G NCBI36
NG_011591.1:g.149604T>G , LRG_230:g.149604T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000471862.2:n.1899-36T>G (COL4A3)
ENST00000683077.1:n.123-36T>G (COL4A3)
ENST00000684413.1:n.2172T>G (COL4A3)
ENST00000684724.1:n.43-17T>G (COL4A3)
ENST00000396578.8:c.4641-36T>G (COL4A3) MANE Select ENSP00000379823.3:n.4641-36T>G
ENST00000469504.2:c.434-36T>G (COL4A3) ENSP00000493493.1:n.434-36T>G
ENST00000643388.1:c.327-36T>G (COL4A3) ENSP00000495177.1:n.327-36T>G
ENST00000396578.7:c.4641-36T>G (COL4A3) ENSP00000379823.3:n.4641-36T>G
ENST00000469504.1:n.149-36T>G (COL4A3)
NM_000091.4:c.4641-36T>G , LRG_230t1:c.4641-36T>G (COL4A3) NP_000082.2:n.4641-36T>G
NR_102371.1:n.48-3513A>C (MFF-DT)
XM_005246276.2:c.4641-36T>G (COL4A3) XP_005246333.1:n.4641-36T>G
XM_005246277.2:c.4536-36T>G (COL4A3) XP_005246334.1:n.4536-36T>G
XM_011510555.1:c.4641-36T>G (COL4A3) XP_011508857.1:n.4641-36T>G
XM_011510556.1:c.3402-36T>G (COL4A3) XP_011508858.1:n.3402-36T>G
XR_241280.2:n.4601-36T>G (COL4A3)
XM_005246277.3:c.4536-36T>G (COL4A3) XP_005246334.1:n.4536-36T>G
XM_011510556.2:c.3402-36T>G (COL4A3) XP_011508858.1:n.3402-36T>G
XR_241280.3:n.4601-36T>G (COL4A3)
NM_000091.5:c.4641-36T>G (COL4A3) MANE Select NP_000082.2:n.4641-36T>G