Canonical Allele Identifier: CA66623814

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs965954894
• gnomAD v3: 2-227312139-C-A
• gnomAD v4: 2-227312139-C-A
• MyVariant Identifiers: chr2:g.228176855C>A (hg19) ; chr2:g.227312139C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312139C>A , CM000664.2:g.227312139C>A	GRCh38
NC_000002.11:g.228176855C>A , CM000664.1:g.228176855C>A	GRCh37
NC_000002.10:g.227885099C>A	NCBI36
NG_011591.1:g.152575C>A , LRG_230:g.152575C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2540C>A (COL4A3)
ENST00000682257.1:n.504C>A (COL4A3)
ENST00000682970.1:n.580C>A (COL4A3)
ENST00000683077.1:n.2221C>A (COL4A3)
ENST00000684413.1:n.2849C>A (COL4A3)
ENST00000684724.1:n.703C>A (COL4A3)
ENST00000396578.8:c.*269C>A (COL4A3) MANE Select	ENSP00000379823.3:n.*269C>A
ENST00000396578.7:c.*269C>A (COL4A3)	ENSP00000379823.3:n.*269C>A
NM_000091.4:c.*269C>A , LRG_230t1:c.*269C>A (COL4A3)	NP_000082.2:n.*269C>A
NR_102371.1:n.48-6484G>T (MFF-DT)
XM_005246276.2:c.*195C>A (COL4A3)	XP_005246333.1:n.*195C>A
XM_005246277.2:c.*269C>A (COL4A3)	XP_005246334.1:n.*269C>A
XM_011510556.1:c.*269C>A (COL4A3)	XP_011508858.1:n.*269C>A
XR_241280.2:n.5242C>A (COL4A3)
XM_005246277.3:c.*269C>A (COL4A3)	XP_005246334.1:n.*269C>A
XM_011510556.2:c.*269C>A (COL4A3)	XP_011508858.1:n.*269C>A
XR_241280.3:n.5242C>A (COL4A3)
NM_000091.5:c.*269C>A (COL4A3) MANE Select	NP_000082.2:n.*269C>A