Canonical Allele Identifier: CA350846303

Gene: COL4A3

Linked Data

• MyVariant Identifiers: chr2:g.228029527A>T (hg19) ; chr2:g.227164811A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227164811A>T , CM000664.2:g.227164811A>T	GRCh38
NC_000002.11:g.228029527A>T , CM000664.1:g.228029527A>T	GRCh37
NC_000002.10:g.227737771A>T	NCBI36
NG_011591.1:g.5247A>T , LRG_230:g.5247A>T
NG_011592.1:g.4749T>A , LRG_231:g.4749T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.85A>T MANE Select	ENSP00000379823.3:p.Lys29Ter
ENST00000396578.7:c.85A>T	ENSP00000379823.3:p.Lys29Ter
NM_000091.4:c.85A>T , LRG_230t1:c.85A>T	NP_000082.2:p.Lys29Ter
XM_005246276.2:c.85A>T	XP_005246333.1:p.Lys29Ter
XM_005246277.2:c.85A>T	XP_005246334.1:p.Lys29Ter
XM_005246280.2:c.85A>T	XP_005246337.1:p.Lys29Ter
XM_006712245.2:c.85A>T	XP_006712308.1:p.Lys29Ter
XM_011510555.1:c.85A>T	XP_011508857.1:p.Lys29Ter
XR_241280.2:n.223A>T
XM_005246277.3:c.85A>T	XP_005246334.1:p.Lys29Ter
XM_005246280.3:c.85A>T	XP_005246337.1:p.Lys29Ter
XM_006712245.3:c.85A>T	XP_006712308.1:p.Lys29Ter
XM_017003295.1:c.85A>T	XP_016858784.1:p.Lys29Ter
XR_001738601.1:n.223A>T
XR_241280.3:n.223A>T
NM_000091.5:c.85A>T MANE Select	NP_000082.2:p.Lys29Ter