Canonical Allele Identifier: CA765678856

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs1174810930
• gnomAD v4: 2-227312073-C-T
• MyVariant Identifiers: chr2:g.228176789C>T (hg19) ; chr2:g.227312073C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312073C>T , CM000664.2:g.227312073C>T	GRCh38
NC_000002.11:g.228176789C>T , CM000664.1:g.228176789C>T	GRCh37
NC_000002.10:g.227885033C>T	NCBI36
NG_011591.1:g.152509C>T , LRG_230:g.152509C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2474C>T (COL4A3)
ENST00000682257.1:n.438C>T (COL4A3)
ENST00000682970.1:n.514C>T (COL4A3)
ENST00000683077.1:n.2155C>T (COL4A3)
ENST00000684413.1:n.2783C>T (COL4A3)
ENST00000684724.1:n.637C>T (COL4A3)
ENST00000396578.8:c.*203C>T (COL4A3) MANE Select	ENSP00000379823.3:n.*203C>T
ENST00000396578.7:c.*203C>T (COL4A3)	ENSP00000379823.3:n.*203C>T
NM_000091.4:c.*203C>T , LRG_230t1:c.*203C>T (COL4A3)	NP_000082.2:n.*203C>T
NR_102371.1:n.48-6418G>A (MFF-DT)
XM_005246276.2:c.*129C>T (COL4A3)	XP_005246333.1:n.*129C>T
XM_005246277.2:c.*203C>T (COL4A3)	XP_005246334.1:n.*203C>T
XM_011510556.1:c.*203C>T (COL4A3)	XP_011508858.1:n.*203C>T
XR_241280.2:n.5176C>T (COL4A3)
XM_005246277.3:c.*203C>T (COL4A3)	XP_005246334.1:n.*203C>T
XM_011510556.2:c.*203C>T (COL4A3)	XP_011508858.1:n.*203C>T
XR_241280.3:n.5176C>T (COL4A3)
NM_000091.5:c.*203C>T (COL4A3) MANE Select	NP_000082.2:n.*203C>T