Canonical Allele Identifier: CA350865466

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 1356227
• ClinVar RCV Id: RCV001869979
• dbSNP Id: rs1574842143
• MyVariant Identifiers: chr2:g.228173923C>A (hg19) ; chr2:g.227309207C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309207C>A , CM000664.2:g.227309207C>A	GRCh38
NC_000002.11:g.228173923C>A , CM000664.1:g.228173923C>A	GRCh37
NC_000002.10:g.227882167C>A	NCBI36
NG_011591.1:g.149643C>A , LRG_230:g.149643C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1902C>A (COL4A3)
ENST00000682257.1:n.39C>A (COL4A3)
ENST00000683077.1:n.126C>A (COL4A3)
ENST00000684413.1:n.2211C>A (COL4A3)
ENST00000684724.1:n.65C>A (COL4A3)
ENST00000396578.8:c.4644C>A (COL4A3) MANE Select	ENSP00000379823.3:p.Cys1548Ter
ENST00000469504.2:c.437C>A (COL4A3)	ENSP00000493493.1:p.Ala146Glu
ENST00000643388.1:c.330C>A (COL4A3)	ENSP00000495177.1:p.Cys110Ter
ENST00000396578.7:c.4644C>A (COL4A3)	ENSP00000379823.3:p.Cys1548Ter
ENST00000469504.1:n.152C>A (COL4A3)
NM_000091.4:c.4644C>A , LRG_230t1:c.4644C>A (COL4A3)	NP_000082.2:p.Cys1548Ter
NR_102371.1:n.48-3552G>T (MFF-DT)
XM_005246276.2:c.4644C>A (COL4A3)	XP_005246333.1:p.Cys1548Ter
XM_005246277.2:c.4539C>A (COL4A3)	XP_005246334.1:p.Cys1513Ter
XM_011510555.1:c.4644C>A (COL4A3)	XP_011508857.1:p.Cys1548Ter
XM_011510556.1:c.3405C>A (COL4A3)	XP_011508858.1:p.Cys1135Ter
XR_241280.2:n.4604C>A (COL4A3)
XM_005246277.3:c.4539C>A (COL4A3)	XP_005246334.1:p.Cys1513Ter
XM_011510556.2:c.3405C>A (COL4A3)	XP_011508858.1:p.Cys1135Ter
XR_241280.3:n.4604C>A (COL4A3)
NM_000091.5:c.4644C>A (COL4A3) MANE Select	NP_000082.2:p.Cys1548Ter