Canonical Allele Identifier: CA645372377

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 397582
• ClinVar RCV Id: RCV000449541

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.[227273090G>A;227273117G>A] , CM000664.2:g.[227273090G>A;227273117G>A]	GRCh38
NC_000002.11:g.[228137806G>A;228137833G>A] , CM000664.1:g.[228137806G>A;228137833G>A]	GRCh37
NC_000002.10:g.[227846050G>A;227846077G>A]	NCBI36
NG_011591.1:g.[113526G>A;113553G>A] , LRG_230:g.[113526G>A;113553G>A]

Transcript Alleles

HGVS	Amino-acid change
ENST00000396578.8:c.[1900G>A;1927G>A] (COL4A3) MANE Select	ENSP00000379823.3:p.[Gly634Arg;Gly643Ser]
ENST00000396578.7:c.[1900G>A;1927G>A] (COL4A3)	ENSP00000379823.3:p.[Gly634Arg;Gly643Ser]
NM_000091.4:c.[1900G>A;1927G>A] , LRG_230t1:c.[1900G>A;1927G>A] (COL4A3)	NP_000082.2:p.[Gly634Arg;Gly643Ser]
NR_102371.1:n.[423-4348C>T;423-4321C>T] (MFF-DT)
XM_005246276.2:c.[1900G>A;1927G>A] (COL4A3)	XP_005246333.1:p.[Gly634Arg;Gly643Ser]
XM_005246277.2:c.[1900G>A;1927G>A] (COL4A3)	XP_005246334.1:p.[Gly634Arg;Gly643Ser]
XM_005246280.2:c.[1900G>A;1927G>A] (COL4A3)	XP_005246337.1:p.[Gly634Arg;Gly643Ser]
XM_006712245.2:c.[1900G>A;1927G>A] (COL4A3)	XP_006712308.1:p.[Gly634Arg;Gly643Ser]
XM_011510555.1:c.[1900G>A;1927G>A] (COL4A3)	XP_011508857.1:p.[Gly634Arg;Gly643Ser]
XM_011510556.1:c.[661G>A;688G>A] (COL4A3)	XP_011508858.1:p.[Gly221Arg;Gly230Ser]
XR_241280.2:n.[2038G>A;2065G>A] (COL4A3)
XM_005246277.3:c.[1900G>A;1927G>A] (COL4A3)	XP_005246334.1:p.[Gly634Arg;Gly643Ser]
XM_005246280.3:c.[1900G>A;1927G>A] (COL4A3)	XP_005246337.1:p.[Gly634Arg;Gly643Ser]
XM_006712245.3:c.[1900G>A;1927G>A] (COL4A3)	XP_006712308.1:p.[Gly634Arg;Gly643Ser]
XM_011510556.2:c.[661G>A;688G>A] (COL4A3)	XP_011508858.1:p.[Gly221Arg;Gly230Ser]
XM_017003295.1:c.[1900G>A;1927G>A] (COL4A3)	XP_016858784.1:p.[Gly634Arg;Gly643Ser]
XR_001738601.1:n.[2038G>A;2065G>A] (COL4A3)
XR_241280.3:n.[2038G>A;2065G>A] (COL4A3)
NM_000091.5:c.[1900G>A;1927G>A] (COL4A3) MANE Select	NP_000082.2:p.[Gly634Arg;Gly643Ser]