Canonical Allele Identifier: CA350845024

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 1438338
• ClinVar RCV Id: RCV001948948
• dbSNP Id: rs1060499696
• COSMIC: COSM1405959 ; COSM1405960
• MyVariant Identifiers: chr2:g.228137806G>T (hg19) ; chr2:g.227273090G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227273090G>T , CM000664.2:g.227273090G>T	GRCh38
NC_000002.11:g.228137806G>T , CM000664.1:g.228137806G>T	GRCh37
NC_000002.10:g.227846050G>T	NCBI36
NG_011591.1:g.113526G>T , LRG_230:g.113526G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396578.8:c.1900G>T (COL4A3) MANE Select	ENSP00000379823.3:p.Gly634Ter
ENST00000396578.7:c.1900G>T (COL4A3)	ENSP00000379823.3:p.Gly634Ter
NM_000091.4:c.1900G>T , LRG_230t1:c.1900G>T (COL4A3)	NP_000082.2:p.Gly634Ter
NR_102371.1:n.423-4321C>A (MFF-DT)
XM_005246276.2:c.1900G>T (COL4A3)	XP_005246333.1:p.Gly634Ter
XM_005246277.2:c.1900G>T (COL4A3)	XP_005246334.1:p.Gly634Ter
XM_005246280.2:c.1900G>T (COL4A3)	XP_005246337.1:p.Gly634Ter
XM_006712245.2:c.1900G>T (COL4A3)	XP_006712308.1:p.Gly634Ter
XM_011510555.1:c.1900G>T (COL4A3)	XP_011508857.1:p.Gly634Ter
XM_011510556.1:c.661G>T (COL4A3)	XP_011508858.1:p.Gly221Ter
XR_241280.2:n.2038G>T (COL4A3)
XM_005246277.3:c.1900G>T (COL4A3)	XP_005246334.1:p.Gly634Ter
XM_005246280.3:c.1900G>T (COL4A3)	XP_005246337.1:p.Gly634Ter
XM_006712245.3:c.1900G>T (COL4A3)	XP_006712308.1:p.Gly634Ter
XM_011510556.2:c.661G>T (COL4A3)	XP_011508858.1:p.Gly221Ter
XM_017003295.1:c.1900G>T (COL4A3)	XP_016858784.1:p.Gly634Ter
XR_001738601.1:n.2038G>T (COL4A3)
XR_241280.3:n.2038G>T (COL4A3)
NM_000091.5:c.1900G>T (COL4A3) MANE Select	NP_000082.2:p.Gly634Ter