Canonical Allele Identifier: CA765669679

Gene: COL4A3

Linked Data

• dbSNP Id: rs1383076330
• gnomAD v3: 2-227164832-A-T
• gnomAD v4: 2-227164832-A-T
• MyVariant Identifiers: chr2:g.228029548A>T (hg19) ; chr2:g.227164832A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227164832A>T , CM000664.2:g.227164832A>T	GRCh38
NC_000002.11:g.228029548A>T , CM000664.1:g.228029548A>T	GRCh37
NC_000002.10:g.227737792A>T	NCBI36
NG_011591.1:g.5268A>T , LRG_230:g.5268A>T
NG_011592.1:g.4728T>A , LRG_231:g.4728T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.87+19A>T MANE Select	ENSP00000379823.3:n.87+19A>T
ENST00000396578.7:c.87+19A>T	ENSP00000379823.3:n.87+19A>T
NM_000091.4:c.87+19A>T , LRG_230t1:c.87+19A>T	NP_000082.2:n.87+19A>T
XM_005246276.2:c.87+19A>T	XP_005246333.1:n.87+19A>T
XM_005246277.2:c.87+19A>T	XP_005246334.1:n.87+19A>T
XM_005246280.2:c.87+19A>T	XP_005246337.1:n.87+19A>T
XM_006712245.2:c.87+19A>T	XP_006712308.1:n.87+19A>T
XM_011510555.1:c.87+19A>T	XP_011508857.1:n.87+19A>T
XR_241280.2:n.225+19A>T
XM_005246277.3:c.87+19A>T	XP_005246334.1:n.87+19A>T
XM_005246280.3:c.87+19A>T	XP_005246337.1:n.87+19A>T
XM_006712245.3:c.87+19A>T	XP_006712308.1:n.87+19A>T
XM_017003295.1:c.87+19A>T	XP_016858784.1:n.87+19A>T
XR_001738601.1:n.225+19A>T
XR_241280.3:n.225+19A>T
NM_000091.5:c.87+19A>T MANE Select	NP_000082.2:n.87+19A>T