Canonical Allele Identifier: CA2147701

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs767360877
• ExAC: 2:228176563 G / A
• gnomAD v2: 2-228176563-G-A
• gnomAD v4: 2-227311847-G-A
• MyVariant Identifiers: chr2:g.228176563G>A (hg19) ; chr2:g.227311847G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311847G>A , CM000664.2:g.227311847G>A	GRCh38
NC_000002.11:g.228176563G>A , CM000664.1:g.228176563G>A	GRCh37
NC_000002.10:g.227884807G>A	NCBI36
NG_011591.1:g.152283G>A , LRG_230:g.152283G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2248G>A (COL4A3)
ENST00000682257.1:n.212G>A (COL4A3)
ENST00000682970.1:n.288G>A (COL4A3)
ENST00000683077.1:n.1929G>A (COL4A3)
ENST00000684413.1:n.2557G>A (COL4A3)
ENST00000684724.1:n.411G>A (COL4A3)
ENST00000396578.8:c.4990G>A (COL4A3) MANE Select	ENSP00000379823.3:p.Val1664Met
ENST00000469504.2:c.783G>A (COL4A3)	ENSP00000493493.1:n.783G>A
ENST00000643388.1:c.503G>A (COL4A3)	ENSP00000495177.1:p.Gly168Asp
ENST00000396578.7:c.4990G>A (COL4A3)	ENSP00000379823.3:p.Val1664Met
ENST00000469504.1:n.498G>A (COL4A3)
NM_000091.4:c.4990G>A , LRG_230t1:c.4990G>A (COL4A3)	NP_000082.2:p.Val1664Met
NR_102371.1:n.48-6192C>T (MFF-DT)
XM_005246276.2:c.4817G>A (COL4A3)	XP_005246333.1:p.Gly1606Asp
XM_005246277.2:c.4885G>A (COL4A3)	XP_005246334.1:p.Val1629Met
XM_011510556.1:c.3751G>A (COL4A3)	XP_011508858.1:p.Val1251Met
XR_241280.2:n.4950G>A (COL4A3)
XM_005246277.3:c.4885G>A (COL4A3)	XP_005246334.1:p.Val1629Met
XM_011510556.2:c.3751G>A (COL4A3)	XP_011508858.1:p.Val1251Met
XR_241280.3:n.4950G>A (COL4A3)
NM_000091.5:c.4990G>A (COL4A3) MANE Select	NP_000082.2:p.Val1664Met