Canonical Allele Identifier: CA431500594
Gene: COL4A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.228029523C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227164807C>G , CM000664.2:g.227164807C>G GRCh38
NC_000002.11:g.228029523C>G , CM000664.1:g.228029523C>G GRCh37
NC_000002.10:g.227737767C>G NCBI36
NG_011591.1:g.5243C>G , LRG_230:g.5243C>G
NG_011592.1:g.4753G>C , LRG_231:g.4753G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000396578.8:c.81C>G MANE Select ENSP00000379823.3:p.Ala27=
ENST00000396578.7:c.81C>G ENSP00000379823.3:p.Ala27=
NM_000091.4:c.81C>G , LRG_230t1:c.81C>G NP_000082.2:p.Ala27=
XM_005246276.2:c.81C>G XP_005246333.1:p.Ala27=
XM_005246277.2:c.81C>G XP_005246334.1:p.Ala27=
XM_005246280.2:c.81C>G XP_005246337.1:p.Ala27=
XM_006712245.2:c.81C>G XP_006712308.1:p.Ala27=
XM_011510555.1:c.81C>G XP_011508857.1:p.Ala27=
XR_241280.2:n.219C>G
XM_005246277.3:c.81C>G XP_005246334.1:p.Ala27=
XM_005246280.3:c.81C>G XP_005246337.1:p.Ala27=
XM_006712245.3:c.81C>G XP_006712308.1:p.Ala27=
XM_017003295.1:c.81C>G XP_016858784.1:p.Ala27=
XR_001738601.1:n.219C>G
XR_241280.3:n.219C>G
NM_000091.5:c.81C>G MANE Select NP_000082.2:p.Ala27=