Canonical Allele Identifier: CA1332861842

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs2073618372

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227308772T>C , CM000664.2:g.227308772T>C	GRCh38
NC_000002.11:g.228173488T>C , CM000664.1:g.228173488T>C	GRCh37
NC_000002.10:g.227881732T>C	NCBI36
NG_011591.1:g.149208T>C , LRG_230:g.149208T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1721-127T>C (COL4A3)
ENST00000684413.1:n.1776T>C (COL4A3)
ENST00000396578.8:c.4463-127T>C (COL4A3) MANE Select	ENSP00000379823.3:n.4463-127T>C
ENST00000469504.2:c.434-432T>C (COL4A3)	ENSP00000493493.1:n.434-432T>C
ENST00000643388.1:c.149-127T>C (COL4A3)	ENSP00000495177.1:n.149-127T>C
ENST00000396578.7:c.4463-127T>C (COL4A3)	ENSP00000379823.3:n.4463-127T>C
ENST00000469504.1:n.149-432T>C (COL4A3)
NM_000091.4:c.4463-127T>C , LRG_230t1:c.4463-127T>C (COL4A3)	NP_000082.2:n.4463-127T>C
NR_102371.1:n.48-3117A>G (MFF-DT)
XM_005246276.2:c.4463-127T>C (COL4A3)	XP_005246333.1:n.4463-127T>C
XM_005246277.2:c.4358-127T>C (COL4A3)	XP_005246334.1:n.4358-127T>C
XM_011510555.1:c.4463-127T>C (COL4A3)	XP_011508857.1:n.4463-127T>C
XM_011510556.1:c.3224-127T>C (COL4A3)	XP_011508858.1:n.3224-127T>C
XR_241280.2:n.4601-432T>C (COL4A3)
XM_005246277.3:c.4358-127T>C (COL4A3)	XP_005246334.1:n.4358-127T>C
XM_011510556.2:c.3224-127T>C (COL4A3)	XP_011508858.1:n.3224-127T>C
XR_241280.3:n.4601-432T>C (COL4A3)
NM_000091.5:c.4463-127T>C (COL4A3) MANE Select	NP_000082.2:n.4463-127T>C