Canonical Allele Identifier: CA350849251

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 1512833
• ClinVar RCV Id: RCV002045754 ; RCV002507802
• dbSNP Id: rs2106151987
• gnomAD v4: 2-227280546-G-T
• MyVariant Identifiers: chr2:g.228145262G>T (hg19) ; chr2:g.227280546G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227280546G>T , CM000664.2:g.227280546G>T	GRCh38
NC_000002.11:g.228145262G>T , CM000664.1:g.228145262G>T	GRCh37
NC_000002.10:g.227853506G>T	NCBI36
NG_011591.1:g.120982G>T , LRG_230:g.120982G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.2330G>T (COL4A3) MANE Select	ENSP00000379823.3:p.Gly777Val
ENST00000396578.7:c.2330G>T (COL4A3)	ENSP00000379823.3:p.Gly777Val
NM_000091.4:c.2330G>T , LRG_230t1:c.2330G>T (COL4A3)	NP_000082.2:p.Gly777Val
NR_102371.1:n.330-971C>A (MFF-DT)
XM_005246276.2:c.2330G>T (COL4A3)	XP_005246333.1:p.Gly777Val
XM_005246277.2:c.2225G>T (COL4A3)	XP_005246334.1:p.Gly742Val
XM_005246280.2:c.2330G>T (COL4A3)	XP_005246337.1:p.Gly777Val
XM_006712245.2:c.2330G>T (COL4A3)	XP_006712308.1:p.Gly777Val
XM_011510555.1:c.2330G>T (COL4A3)	XP_011508857.1:p.Gly777Val
XM_011510556.1:c.1091G>T (COL4A3)	XP_011508858.1:p.Gly364Val
XR_241280.2:n.2468G>T (COL4A3)
XM_005246277.3:c.2225G>T (COL4A3)	XP_005246334.1:p.Gly742Val
XM_005246280.3:c.2330G>T (COL4A3)	XP_005246337.1:p.Gly777Val
XM_006712245.3:c.2330G>T (COL4A3)	XP_006712308.1:p.Gly777Val
XM_011510556.2:c.1091G>T (COL4A3)	XP_011508858.1:p.Gly364Val
XM_017003295.1:c.2330G>T (COL4A3)	XP_016858784.1:p.Gly777Val
XR_001738601.1:n.2468G>T (COL4A3)
XR_241280.3:n.2468G>T (COL4A3)
NM_000091.5:c.2330G>T (COL4A3) MANE Select	NP_000082.2:p.Gly777Val