Canonical Allele Identifier: CA350846087

Gene: COL4A3

Linked Data

• gnomAD v4: 2-227164773-T-C
• MyVariant Identifiers: chr2:g.228029489T>C (hg19) ; chr2:g.227164773T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.47T>C MANE Select	ENSP00000379823.3:p.Leu16Pro
ENST00000396578.7:c.47T>C	ENSP00000379823.3:p.Leu16Pro
NM_000091.4:c.47T>C , LRG_230t1:c.47T>C	NP_000082.2:p.Leu16Pro
XM_005246276.2:c.47T>C	XP_005246333.1:p.Leu16Pro
XM_005246277.2:c.47T>C	XP_005246334.1:p.Leu16Pro
XM_005246280.2:c.47T>C	XP_005246337.1:p.Leu16Pro
XM_006712245.2:c.47T>C	XP_006712308.1:p.Leu16Pro
XM_011510555.1:c.47T>C	XP_011508857.1:p.Leu16Pro
XR_241280.2:n.185T>C
XM_005246277.3:c.47T>C	XP_005246334.1:p.Leu16Pro
XM_005246280.3:c.47T>C	XP_005246337.1:p.Leu16Pro
XM_006712245.3:c.47T>C	XP_006712308.1:p.Leu16Pro
XM_017003295.1:c.47T>C	XP_016858784.1:p.Leu16Pro
XR_001738601.1:n.185T>C
XR_241280.3:n.185T>C
NM_000091.5:c.47T>C MANE Select	NP_000082.2:p.Leu16Pro