Canonical Allele Identifier: CA16609390

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 397521
• ClinVar RCV Id: RCV000449592 ; RCV001379028
• dbSNP Id: rs373324875
• MyVariant Identifiers: chr2:g.228148482G>T (hg19) ; chr2:g.227283766G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227283766G>T , CM000664.2:g.227283766G>T	GRCh38
NC_000002.11:g.228148482G>T , CM000664.1:g.228148482G>T	GRCh37
NC_000002.10:g.227856726G>T	NCBI36
NG_011591.1:g.124202G>T , LRG_230:g.124202G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.2657-1G>T (COL4A3) MANE Select	ENSP00000379823.3:n.2657-1G>T
ENST00000396578.7:c.2657-1G>T (COL4A3)	ENSP00000379823.3:n.2657-1G>T
NM_000091.4:c.2657-1G>T , LRG_230t1:c.2657-1G>T (COL4A3)	NP_000082.2:n.2657-1G>T
NR_102371.1:n.244-1977C>A (MFF-DT)
XM_005246276.2:c.2657-1G>T (COL4A3)	XP_005246333.1:n.2657-1G>T
XM_005246277.2:c.2552-1G>T (COL4A3)	XP_005246334.1:n.2552-1G>T
XM_005246280.2:c.2657-1G>T (COL4A3)	XP_005246337.1:n.2657-1G>T
XM_006712245.2:c.2657-1G>T (COL4A3)	XP_006712308.1:n.2657-1G>T
XM_011510555.1:c.2657-1G>T (COL4A3)	XP_011508857.1:n.2657-1G>T
XM_011510556.1:c.1418-1G>T (COL4A3)	XP_011508858.1:n.1418-1G>T
XR_241280.2:n.2795-1G>T (COL4A3)
XM_005246277.3:c.2552-1G>T (COL4A3)	XP_005246334.1:n.2552-1G>T
XM_005246280.3:c.2657-1G>T (COL4A3)	XP_005246337.1:n.2657-1G>T
XM_006712245.3:c.2657-1G>T (COL4A3)	XP_006712308.1:n.2657-1G>T
XM_011510556.2:c.1418-1G>T (COL4A3)	XP_011508858.1:n.1418-1G>T
XM_017003295.1:c.2657-1G>T (COL4A3)	XP_016858784.1:n.2657-1G>T
XR_001738601.1:n.2795-1G>T (COL4A3)
XR_241280.3:n.2795-1G>T (COL4A3)
NM_000091.5:c.2657-1G>T (COL4A3) MANE Select	NP_000082.2:n.2657-1G>T