Canonical Allele Identifier: CA350846249

Gene: COL4A3

Linked Data

• dbSNP Id: rs1361533883
• gnomAD v3: 2-227164803-C-A
• gnomAD v4: 2-227164803-C-A
• MyVariant Identifiers: chr2:g.228029519C>A (hg19) ; chr2:g.227164803C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227164803C>A , CM000664.2:g.227164803C>A	GRCh38
NC_000002.11:g.228029519C>A , CM000664.1:g.228029519C>A	GRCh37
NC_000002.10:g.227737763C>A	NCBI36
NG_011591.1:g.5239C>A , LRG_230:g.5239C>A
NG_011592.1:g.4757G>T , LRG_231:g.4757G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.77C>A MANE Select	ENSP00000379823.3:p.Ala26Glu
ENST00000396578.7:c.77C>A	ENSP00000379823.3:p.Ala26Glu
NM_000091.4:c.77C>A , LRG_230t1:c.77C>A	NP_000082.2:p.Ala26Glu
XM_005246276.2:c.77C>A	XP_005246333.1:p.Ala26Glu
XM_005246277.2:c.77C>A	XP_005246334.1:p.Ala26Glu
XM_005246280.2:c.77C>A	XP_005246337.1:p.Ala26Glu
XM_006712245.2:c.77C>A	XP_006712308.1:p.Ala26Glu
XM_011510555.1:c.77C>A	XP_011508857.1:p.Ala26Glu
XR_241280.2:n.215C>A
XM_005246277.3:c.77C>A	XP_005246334.1:p.Ala26Glu
XM_005246280.3:c.77C>A	XP_005246337.1:p.Ala26Glu
XM_006712245.3:c.77C>A	XP_006712308.1:p.Ala26Glu
XM_017003295.1:c.77C>A	XP_016858784.1:p.Ala26Glu
XR_001738601.1:n.215C>A
XR_241280.3:n.215C>A
NM_000091.5:c.77C>A MANE Select	NP_000082.2:p.Ala26Glu