Canonical Allele Identifier: CA350864981

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 983882
• ClinVar RCV Id: RCV001263885
• dbSNP Id: rs2073628823
• MyVariant Identifiers: chr2:g.228173667C>A (hg19) ; chr2:g.227308951C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227308951C>A , CM000664.2:g.227308951C>A	GRCh38
NC_000002.11:g.228173667C>A , CM000664.1:g.228173667C>A	GRCh37
NC_000002.10:g.227881911C>A	NCBI36
NG_011591.1:g.149387C>A , LRG_230:g.149387C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1773C>A (COL4A3)
ENST00000684413.1:n.1955C>A (COL4A3)
ENST00000396578.8:c.4515C>A (COL4A3) MANE Select	ENSP00000379823.3:p.Cys1505Ter
ENST00000469504.2:c.434-253C>A (COL4A3)	ENSP00000493493.1:n.434-253C>A
ENST00000643388.1:c.201C>A (COL4A3)	ENSP00000495177.1:p.Cys67Ter
ENST00000396578.7:c.4515C>A (COL4A3)	ENSP00000379823.3:p.Cys1505Ter
ENST00000469504.1:n.149-253C>A (COL4A3)
NM_000091.4:c.4515C>A , LRG_230t1:c.4515C>A (COL4A3)	NP_000082.2:p.Cys1505Ter
NR_102371.1:n.48-3296G>T (MFF-DT)
XM_005246276.2:c.4515C>A (COL4A3)	XP_005246333.1:p.Cys1505Ter
XM_005246277.2:c.4410C>A (COL4A3)	XP_005246334.1:p.Cys1470Ter
XM_011510555.1:c.4515C>A (COL4A3)	XP_011508857.1:p.Cys1505Ter
XM_011510556.1:c.3276C>A (COL4A3)	XP_011508858.1:p.Cys1092Ter
XR_241280.2:n.4601-253C>A (COL4A3)
XM_005246277.3:c.4410C>A (COL4A3)	XP_005246334.1:p.Cys1470Ter
XM_011510556.2:c.3276C>A (COL4A3)	XP_011508858.1:p.Cys1092Ter
XR_241280.3:n.4601-253C>A (COL4A3)
NM_000091.5:c.4515C>A (COL4A3) MANE Select	NP_000082.2:p.Cys1505Ter