Canonical Allele Identifier: CA2146592

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 334759
• ClinVar RCV Id: RCV000324429 ; RCV001029875 ; RCV001559268 ; RCV001580484
• dbSNP Id: rs201031986
• ExAC: 2:228128601 C / A
• gnomAD v2: 2-228128601-C-A
• gnomAD v3: 2-227263885-C-A
• gnomAD v4: 2-227263885-C-A
• MyVariant Identifiers: chr2:g.228128601C>A (hg19) ; chr2:g.227263885C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227263885C>A , CM000664.2:g.227263885C>A	GRCh38
NC_000002.11:g.228128601C>A , CM000664.1:g.228128601C>A	GRCh37
NC_000002.10:g.227836845C>A	NCBI36
NG_011591.1:g.104321C>A , LRG_230:g.104321C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.1256C>A (COL4A3) MANE Select	ENSP00000379823.3:p.Ser419Tyr
ENST00000396578.7:c.1256C>A (COL4A3)	ENSP00000379823.3:p.Ser419Tyr
NM_000091.4:c.1256C>A , LRG_230t1:c.1256C>A (COL4A3)	NP_000082.2:p.Ser419Tyr
NR_102371.1:n.1486+784G>T (MFF-DT)
XM_005246276.2:c.1256C>A (COL4A3)	XP_005246333.1:p.Ser419Tyr
XM_005246277.2:c.1256C>A (COL4A3)	XP_005246334.1:p.Ser419Tyr
XM_005246280.2:c.1256C>A (COL4A3)	XP_005246337.1:p.Ser419Tyr
XM_006712245.2:c.1256C>A (COL4A3)	XP_006712308.1:p.Ser419Tyr
XM_011510555.1:c.1256C>A (COL4A3)	XP_011508857.1:p.Ser419Tyr
XM_011510556.1:c.17C>A (COL4A3)	XP_011508858.1:p.Ser6Tyr
XR_241280.2:n.1394C>A (COL4A3)
XM_005246277.3:c.1256C>A (COL4A3)	XP_005246334.1:p.Ser419Tyr
XM_005246280.3:c.1256C>A (COL4A3)	XP_005246337.1:p.Ser419Tyr
XM_006712245.3:c.1256C>A (COL4A3)	XP_006712308.1:p.Ser419Tyr
XM_011510556.2:c.17C>A (COL4A3)	XP_011508858.1:p.Ser6Tyr
XM_017003295.1:c.1256C>A (COL4A3)	XP_016858784.1:p.Ser419Tyr
XR_001738601.1:n.1394C>A (COL4A3)
XR_241280.3:n.1394C>A (COL4A3)
NM_000091.5:c.1256C>A (COL4A3) MANE Select	NP_000082.2:p.Ser419Tyr