Canonical Allele Identifier: CA2663432181

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227312206-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312206C>T , CM000664.2:g.227312206C>T	GRCh38
NC_000002.11:g.228176922C>T , CM000664.1:g.228176922C>T	GRCh37
NC_000002.10:g.227885166C>T	NCBI36
NG_011591.1:g.152642C>T , LRG_230:g.152642C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2607C>T (COL4A3)
ENST00000682257.1:n.571C>T (COL4A3)
ENST00000682970.1:n.647C>T (COL4A3)
ENST00000683077.1:n.2288C>T (COL4A3)
ENST00000684413.1:n.2916C>T (COL4A3)
ENST00000684724.1:n.770C>T (COL4A3)
ENST00000396578.8:c.*336C>T (COL4A3) MANE Select	ENSP00000379823.3:n.*336C>T
ENST00000396578.7:c.*336C>T (COL4A3)	ENSP00000379823.3:n.*336C>T
NM_000091.4:c.*336C>T , LRG_230t1:c.*336C>T (COL4A3)	NP_000082.2:n.*336C>T
NR_102371.1:n.48-6551G>A (MFF-DT)
XM_005246276.2:c.*262C>T (COL4A3)	XP_005246333.1:n.*262C>T
XM_005246277.2:c.*336C>T (COL4A3)	XP_005246334.1:n.*336C>T
XM_011510556.1:c.*336C>T (COL4A3)	XP_011508858.1:n.*336C>T
XR_241280.2:n.5309C>T (COL4A3)
XM_005246277.3:c.*336C>T (COL4A3)	XP_005246334.1:n.*336C>T
XM_011510556.2:c.*336C>T (COL4A3)	XP_011508858.1:n.*336C>T
XR_241280.3:n.5309C>T (COL4A3)
NM_000091.5:c.*336C>T (COL4A3) MANE Select	NP_000082.2:n.*336C>T