Canonical Allele Identifier: CA2841693027
Gene: COL4A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227164649C>T , CM000664.2:g.227164649C>T GRCh38
NC_000002.11:g.228029365C>T , CM000664.1:g.228029365C>T GRCh37
NC_000002.10:g.227737609C>T NCBI36
NG_011591.1:g.5085C>T , LRG_230:g.5085C>T
NG_011592.1:g.4911G>A , LRG_231:g.4911G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396578.8:c.-78C>T MANE Select ENSP00000379823.3:n.-78C>T
ENST00000396578.7:c.-78C>T ENSP00000379823.3:n.-78C>T
NM_000091.4:c.-78C>T , LRG_230t1:c.-78C>T NP_000082.2:n.-78C>T
XM_005246276.2:c.-78C>T XP_005246333.1:n.-78C>T
XM_005246277.2:c.-78C>T XP_005246334.1:n.-78C>T
XM_005246280.2:c.-78C>T XP_005246337.1:n.-78C>T
XM_006712245.2:c.-78C>T XP_006712308.1:n.-78C>T
XM_011510555.1:c.-78C>T XP_011508857.1:n.-78C>T
XR_241280.2:n.61C>T
XM_005246277.3:c.-78C>T XP_005246334.1:n.-78C>T
XM_005246280.3:c.-78C>T XP_005246337.1:n.-78C>T
XM_006712245.3:c.-78C>T XP_006712308.1:n.-78C>T
XM_017003295.1:c.-78C>T XP_016858784.1:n.-78C>T
XR_001738601.1:n.61C>T
XR_241280.3:n.61C>T
NM_000091.5:c.-78C>T MANE Select NP_000082.2:n.-78C>T