Canonical Allele Identifier: CA1043065932

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs2073760185
• gnomAD v3: 2-227311988-T-A
• gnomAD v4: 2-227311988-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311988T>A , CM000664.2:g.227311988T>A	GRCh38
NC_000002.11:g.228176704T>A , CM000664.1:g.228176704T>A	GRCh37
NC_000002.10:g.227884948T>A	NCBI36
NG_011591.1:g.152424T>A , LRG_230:g.152424T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2389T>A (COL4A3)
ENST00000682257.1:n.353T>A (COL4A3)
ENST00000682970.1:n.429T>A (COL4A3)
ENST00000683077.1:n.2070T>A (COL4A3)
ENST00000684413.1:n.2698T>A (COL4A3)
ENST00000684724.1:n.552T>A (COL4A3)
ENST00000396578.8:c.*118T>A (COL4A3) MANE Select	ENSP00000379823.3:n.*118T>A
ENST00000396578.7:c.*118T>A (COL4A3)	ENSP00000379823.3:n.*118T>A
NM_000091.4:c.*118T>A , LRG_230t1:c.*118T>A (COL4A3)	NP_000082.2:n.*118T>A
NR_102371.1:n.48-6333A>T (MFF-DT)
XM_005246276.2:c.*44T>A (COL4A3)	XP_005246333.1:n.*44T>A
XM_005246277.2:c.*118T>A (COL4A3)	XP_005246334.1:n.*118T>A
XM_011510556.1:c.*118T>A (COL4A3)	XP_011508858.1:n.*118T>A
XR_241280.2:n.5091T>A (COL4A3)
XM_005246277.3:c.*118T>A (COL4A3)	XP_005246334.1:n.*118T>A
XM_011510556.2:c.*118T>A (COL4A3)	XP_011508858.1:n.*118T>A
XR_241280.3:n.5091T>A (COL4A3)
NM_000091.5:c.*118T>A (COL4A3) MANE Select	NP_000082.2:n.*118T>A