Canonical Allele Identifier: CA2663431913

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227311740-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311740T>G , CM000664.2:g.227311740T>G	GRCh38
NC_000002.11:g.228176456T>G , CM000664.1:g.228176456T>G	GRCh37
NC_000002.10:g.227884700T>G	NCBI36
NG_011591.1:g.152176T>G , LRG_230:g.152176T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.2187-46T>G (COL4A3)
ENST00000682257.1:n.151-46T>G (COL4A3)
ENST00000682970.1:n.227-46T>G (COL4A3)
ENST00000683077.1:n.1868-46T>G (COL4A3)
ENST00000684413.1:n.2496-46T>G (COL4A3)
ENST00000684724.1:n.350-46T>G (COL4A3)
ENST00000396578.8:c.4929-46T>G (COL4A3) MANE Select	ENSP00000379823.3:n.4929-46T>G
ENST00000469504.2:c.722-46T>G (COL4A3)	ENSP00000493493.1:n.722-46T>G
ENST00000643388.1:c.442-46T>G (COL4A3)	ENSP00000495177.1:n.442-46T>G
ENST00000396578.7:c.4929-46T>G (COL4A3)	ENSP00000379823.3:n.4929-46T>G
ENST00000469504.1:n.437-46T>G (COL4A3)
NM_000091.4:c.4929-46T>G , LRG_230t1:c.4929-46T>G (COL4A3)	NP_000082.2:n.4929-46T>G
NR_102371.1:n.48-6085A>C (MFF-DT)
XM_005246276.2:c.4756-46T>G (COL4A3)	XP_005246333.1:n.4756-46T>G
XM_005246277.2:c.4824-46T>G (COL4A3)	XP_005246334.1:n.4824-46T>G
XM_011510556.1:c.3690-46T>G (COL4A3)	XP_011508858.1:n.3690-46T>G
XR_241280.2:n.4889-46T>G (COL4A3)
XM_005246277.3:c.4824-46T>G (COL4A3)	XP_005246334.1:n.4824-46T>G
XM_011510556.2:c.3690-46T>G (COL4A3)	XP_011508858.1:n.3690-46T>G
XR_241280.3:n.4889-46T>G (COL4A3)
NM_000091.5:c.4929-46T>G (COL4A3) MANE Select	NP_000082.2:n.4929-46T>G