Canonical Allele Identifier: CA350846068

Gene: COL4A3

Linked Data

• gnomAD v4: 2-227164770-C-A
• MyVariant Identifiers: chr2:g.228029486C>A (hg19) ; chr2:g.227164770C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227164770C>A , CM000664.2:g.227164770C>A	GRCh38
NC_000002.11:g.228029486C>A , CM000664.1:g.228029486C>A	GRCh37
NC_000002.10:g.227737730C>A	NCBI36
NG_011591.1:g.5206C>A , LRG_230:g.5206C>A
NG_011592.1:g.4790G>T , LRG_231:g.4790G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.44C>A MANE Select	ENSP00000379823.3:p.Pro15Gln
ENST00000396578.7:c.44C>A	ENSP00000379823.3:p.Pro15Gln
NM_000091.4:c.44C>A , LRG_230t1:c.44C>A	NP_000082.2:p.Pro15Gln
XM_005246276.2:c.44C>A	XP_005246333.1:p.Pro15Gln
XM_005246277.2:c.44C>A	XP_005246334.1:p.Pro15Gln
XM_005246280.2:c.44C>A	XP_005246337.1:p.Pro15Gln
XM_006712245.2:c.44C>A	XP_006712308.1:p.Pro15Gln
XM_011510555.1:c.44C>A	XP_011508857.1:p.Pro15Gln
XR_241280.2:n.182C>A
XM_005246277.3:c.44C>A	XP_005246334.1:p.Pro15Gln
XM_005246280.3:c.44C>A	XP_005246337.1:p.Pro15Gln
XM_006712245.3:c.44C>A	XP_006712308.1:p.Pro15Gln
XM_017003295.1:c.44C>A	XP_016858784.1:p.Pro15Gln
XR_001738601.1:n.182C>A
XR_241280.3:n.182C>A
NM_000091.5:c.44C>A MANE Select	NP_000082.2:p.Pro15Gln