Canonical Allele Identifier: CA1043065938

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs2073763729
• gnomAD v3: 2-227312100-T-C
• gnomAD v4: 2-227312100-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312100T>C , CM000664.2:g.227312100T>C	GRCh38
NC_000002.11:g.228176816T>C , CM000664.1:g.228176816T>C	GRCh37
NC_000002.10:g.227885060T>C	NCBI36
NG_011591.1:g.152536T>C , LRG_230:g.152536T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2501T>C (COL4A3)
ENST00000682257.1:n.465T>C (COL4A3)
ENST00000682970.1:n.541T>C (COL4A3)
ENST00000683077.1:n.2182T>C (COL4A3)
ENST00000684413.1:n.2810T>C (COL4A3)
ENST00000684724.1:n.664T>C (COL4A3)
ENST00000396578.8:c.*230T>C (COL4A3) MANE Select	ENSP00000379823.3:n.*230T>C
ENST00000396578.7:c.*230T>C (COL4A3)	ENSP00000379823.3:n.*230T>C
NM_000091.4:c.*230T>C , LRG_230t1:c.*230T>C (COL4A3)	NP_000082.2:n.*230T>C
NR_102371.1:n.48-6445A>G (MFF-DT)
XM_005246276.2:c.*156T>C (COL4A3)	XP_005246333.1:n.*156T>C
XM_005246277.2:c.*230T>C (COL4A3)	XP_005246334.1:n.*230T>C
XM_011510556.1:c.*230T>C (COL4A3)	XP_011508858.1:n.*230T>C
XR_241280.2:n.5203T>C (COL4A3)
XM_005246277.3:c.*230T>C (COL4A3)	XP_005246334.1:n.*230T>C
XM_011510556.2:c.*230T>C (COL4A3)	XP_011508858.1:n.*230T>C
XR_241280.3:n.5203T>C (COL4A3)
NM_000091.5:c.*230T>C (COL4A3) MANE Select	NP_000082.2:n.*230T>C