Canonical Allele Identifier: CA66634140

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 796151
• ClinVar RCV Id: RCV000979517 ; RCV001832272
• dbSNP Id: rs766591906
• gnomAD v4: 2-227266469-T-C
• MyVariant Identifiers: chr2:g.228131185T>C (hg19) ; chr2:g.227266469T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227266469T>C , CM000664.2:g.227266469T>C	GRCh38
NC_000002.11:g.228131185T>C , CM000664.1:g.228131185T>C	GRCh37
NC_000002.10:g.227839429T>C	NCBI36
NG_011591.1:g.106905T>C , LRG_230:g.106905T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.1368T>C (COL4A3) MANE Select	ENSP00000379823.3:p.Tyr456=
ENST00000396578.7:c.1368T>C (COL4A3)	ENSP00000379823.3:p.Tyr456=
NM_000091.4:c.1368T>C , LRG_230t1:c.1368T>C (COL4A3)	NP_000082.2:p.Tyr456=
NR_102371.1:n.656-534A>G (MFF-DT)
XM_005246276.2:c.1368T>C (COL4A3)	XP_005246333.1:p.Tyr456=
XM_005246277.2:c.1368T>C (COL4A3)	XP_005246334.1:p.Tyr456=
XM_005246280.2:c.1368T>C (COL4A3)	XP_005246337.1:p.Tyr456=
XM_006712245.2:c.1368T>C (COL4A3)	XP_006712308.1:p.Tyr456=
XM_011510555.1:c.1368T>C (COL4A3)	XP_011508857.1:p.Tyr456=
XM_011510556.1:c.129T>C (COL4A3)	XP_011508858.1:p.Tyr43=
XR_241280.2:n.1506T>C (COL4A3)
XM_005246277.3:c.1368T>C (COL4A3)	XP_005246334.1:p.Tyr456=
XM_005246280.3:c.1368T>C (COL4A3)	XP_005246337.1:p.Tyr456=
XM_006712245.3:c.1368T>C (COL4A3)	XP_006712308.1:p.Tyr456=
XM_011510556.2:c.129T>C (COL4A3)	XP_011508858.1:p.Tyr43=
XM_017003295.1:c.1368T>C (COL4A3)	XP_016858784.1:p.Tyr456=
XR_001738601.1:n.1506T>C (COL4A3)
XR_241280.3:n.1506T>C (COL4A3)
NM_000091.5:c.1368T>C (COL4A3) MANE Select	NP_000082.2:p.Tyr456=