Canonical Allele Identifier: CA658657247

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 451439
• ClinVar RCV Id: RCV000520022 ; RCV001089908
• dbSNP Id: rs1553764454
• MyVariant Identifiers: chr2:g.228163533G>A (hg19) ; chr2:g.227298817G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227298817G>A , CM000664.2:g.227298817G>A	GRCh38
NC_000002.11:g.228163533G>A , CM000664.1:g.228163533G>A	GRCh37
NC_000002.10:g.227871777G>A	NCBI36
NG_011591.1:g.139253G>A , LRG_230:g.139253G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.300+5G>A (COL4A3)
ENST00000396578.8:c.3882+5G>A (COL4A3) MANE Select	ENSP00000379823.3:n.3882+5G>A
ENST00000396578.7:c.3882+5G>A (COL4A3)	ENSP00000379823.3:n.3882+5G>A
ENST00000468753.5:n.545+5G>A (COL4A3)
ENST00000471862.1:n.300+5G>A (COL4A3)
NM_000091.4:c.3882+5G>A , LRG_230t1:c.3882+5G>A (COL4A3)	NP_000082.2:n.3882+5G>A
NR_102371.1:n.243+6643C>T (MFF-DT)
XM_005246276.2:c.3882+5G>A (COL4A3)	XP_005246333.1:n.3882+5G>A
XM_005246277.2:c.3777+5G>A (COL4A3)	XP_005246334.1:n.3777+5G>A
XM_011510555.1:c.3882+5G>A (COL4A3)	XP_011508857.1:n.3882+5G>A
XM_011510556.1:c.2643+5G>A (COL4A3)	XP_011508858.1:n.2643+5G>A
XR_241280.2:n.4020+5G>A (COL4A3)
XM_005246277.3:c.3777+5G>A (COL4A3)	XP_005246334.1:n.3777+5G>A
XM_011510556.2:c.2643+5G>A (COL4A3)	XP_011508858.1:n.2643+5G>A
XR_241280.3:n.4020+5G>A (COL4A3)
NM_000091.5:c.3882+5G>A (COL4A3) MANE Select	NP_000082.2:n.3882+5G>A