Canonical Allele Identifier: CA2145881

Gene: COL4A3

Linked Data

• ClinVar Variation Id: 334752
• ClinVar RCV Id: RCV000270943 ; RCV000607819
• dbSNP Id: rs770803750
• ExAC: 2:228029430 G / C
• gnomAD v2: 2-228029430-G-C
• gnomAD v3: 2-227164714-G-C
• gnomAD v4: 2-227164714-G-C
• MyVariant Identifiers: chr2:g.228029430G>C (hg19) ; chr2:g.227164714G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227164714G>C , CM000664.2:g.227164714G>C	GRCh38
NC_000002.11:g.228029430G>C , CM000664.1:g.228029430G>C	GRCh37
NC_000002.10:g.227737674G>C	NCBI36
NG_011591.1:g.5150G>C , LRG_230:g.5150G>C
NG_011592.1:g.4846C>G , LRG_231:g.4846C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.-13G>C MANE Select	ENSP00000379823.3:n.-13G>C
ENST00000396578.7:c.-13G>C	ENSP00000379823.3:n.-13G>C
NM_000091.4:c.-13G>C , LRG_230t1:c.-13G>C	NP_000082.2:n.-13G>C
XM_005246276.2:c.-13G>C	XP_005246333.1:n.-13G>C
XM_005246277.2:c.-13G>C	XP_005246334.1:n.-13G>C
XM_005246280.2:c.-13G>C	XP_005246337.1:n.-13G>C
XM_006712245.2:c.-13G>C	XP_006712308.1:n.-13G>C
XM_011510555.1:c.-13G>C	XP_011508857.1:n.-13G>C
XR_241280.2:n.126G>C
XM_005246277.3:c.-13G>C	XP_005246334.1:n.-13G>C
XM_005246280.3:c.-13G>C	XP_005246337.1:n.-13G>C
XM_006712245.3:c.-13G>C	XP_006712308.1:n.-13G>C
XM_017003295.1:c.-13G>C	XP_016858784.1:n.-13G>C
XR_001738601.1:n.126G>C
XR_241280.3:n.126G>C
NM_000091.5:c.-13G>C MANE Select	NP_000082.2:n.-13G>C