Canonical Allele Identifier: CA2577264769

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227257521-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227257521C>T , CM000664.2:g.227257521C>T	GRCh38
NC_000002.11:g.228122237C>T , CM000664.1:g.228122237C>T	GRCh37
NC_000002.10:g.227830481C>T	NCBI36
NG_011591.1:g.97957C>T , LRG_230:g.97957C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396578.8:c.988-82C>T (COL4A3) MANE Select	ENSP00000379823.3:n.988-82C>T
ENST00000396578.7:c.988-82C>T (COL4A3)	ENSP00000379823.3:n.988-82C>T
NM_000091.4:c.988-82C>T , LRG_230t1:c.988-82C>T (COL4A3)	NP_000082.2:n.988-82C>T
NR_102371.1:n.1592+1657G>A (MFF-DT)
XM_005246276.2:c.988-82C>T (COL4A3)	XP_005246333.1:n.988-82C>T
XM_005246277.2:c.988-82C>T (COL4A3)	XP_005246334.1:n.988-82C>T
XM_005246280.2:c.988-82C>T (COL4A3)	XP_005246337.1:n.988-82C>T
XM_006712245.2:c.988-82C>T (COL4A3)	XP_006712308.1:n.988-82C>T
XM_011510555.1:c.988-82C>T (COL4A3)	XP_011508857.1:n.988-82C>T
XM_011510556.1:c.-248-82C>T (COL4A3)	XP_011508858.1:n.-248-82C>T
XR_241280.2:n.1126-82C>T (COL4A3)
XM_005246277.3:c.988-82C>T (COL4A3)	XP_005246334.1:n.988-82C>T
XM_005246280.3:c.988-82C>T (COL4A3)	XP_005246337.1:n.988-82C>T
XM_006712245.3:c.988-82C>T (COL4A3)	XP_006712308.1:n.988-82C>T
XM_011510556.2:c.-248-82C>T (COL4A3)	XP_011508858.1:n.-248-82C>T
XM_017003295.1:c.988-82C>T (COL4A3)	XP_016858784.1:n.988-82C>T
XR_001738601.1:n.1126-82C>T (COL4A3)
XR_241280.3:n.1126-82C>T (COL4A3)
NM_000091.5:c.988-82C>T (COL4A3) MANE Select	NP_000082.2:n.988-82C>T