Canonical Allele Identifier: CA350846088

Gene: COL4A3

Linked Data

• MyVariant Identifiers: chr2:g.228029489T>G (hg19) ; chr2:g.227164773T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227164773T>G , CM000664.2:g.227164773T>G	GRCh38
NC_000002.11:g.228029489T>G , CM000664.1:g.228029489T>G	GRCh37
NC_000002.10:g.227737733T>G	NCBI36
NG_011591.1:g.5209T>G , LRG_230:g.5209T>G
NG_011592.1:g.4787A>C , LRG_231:g.4787A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.47T>G MANE Select	ENSP00000379823.3:p.Leu16Arg
ENST00000396578.7:c.47T>G	ENSP00000379823.3:p.Leu16Arg
NM_000091.4:c.47T>G , LRG_230t1:c.47T>G	NP_000082.2:p.Leu16Arg
XM_005246276.2:c.47T>G	XP_005246333.1:p.Leu16Arg
XM_005246277.2:c.47T>G	XP_005246334.1:p.Leu16Arg
XM_005246280.2:c.47T>G	XP_005246337.1:p.Leu16Arg
XM_006712245.2:c.47T>G	XP_006712308.1:p.Leu16Arg
XM_011510555.1:c.47T>G	XP_011508857.1:p.Leu16Arg
XR_241280.2:n.185T>G
XM_005246277.3:c.47T>G	XP_005246334.1:p.Leu16Arg
XM_005246280.3:c.47T>G	XP_005246337.1:p.Leu16Arg
XM_006712245.3:c.47T>G	XP_006712308.1:p.Leu16Arg
XM_017003295.1:c.47T>G	XP_016858784.1:p.Leu16Arg
XR_001738601.1:n.185T>G
XR_241280.3:n.185T>G
NM_000091.5:c.47T>G MANE Select	NP_000082.2:p.Leu16Arg