Canonical Allele Identifier: CA350866828

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs1303148556
• gnomAD v2: 2-228176560-C-G
• gnomAD v4: 2-227311844-C-G
• MyVariant Identifiers: chr2:g.228176560C>G (hg19) ; chr2:g.227311844C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311844C>G , CM000664.2:g.227311844C>G	GRCh38
NC_000002.11:g.228176560C>G , CM000664.1:g.228176560C>G	GRCh37
NC_000002.10:g.227884804C>G	NCBI36
NG_011591.1:g.152280C>G , LRG_230:g.152280C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.2245C>G (COL4A3)
ENST00000682257.1:n.209C>G (COL4A3)
ENST00000682970.1:n.285C>G (COL4A3)
ENST00000683077.1:n.1926C>G (COL4A3)
ENST00000684413.1:n.2554C>G (COL4A3)
ENST00000684724.1:n.408C>G (COL4A3)
ENST00000396578.8:c.4987C>G (COL4A3) MANE Select	ENSP00000379823.3:p.Gln1663Glu
ENST00000469504.2:c.780C>G (COL4A3)	ENSP00000493493.1:n.780C>G
ENST00000643388.1:c.500C>G (COL4A3)	ENSP00000495177.1:p.Ser167Ter
ENST00000396578.7:c.4987C>G (COL4A3)	ENSP00000379823.3:p.Gln1663Glu
ENST00000469504.1:n.495C>G (COL4A3)
NM_000091.4:c.4987C>G , LRG_230t1:c.4987C>G (COL4A3)	NP_000082.2:p.Gln1663Glu
NR_102371.1:n.48-6189G>C (MFF-DT)
XM_005246276.2:c.4814C>G (COL4A3)	XP_005246333.1:p.Ser1605Ter
XM_005246277.2:c.4882C>G (COL4A3)	XP_005246334.1:p.Gln1628Glu
XM_011510556.1:c.3748C>G (COL4A3)	XP_011508858.1:p.Gln1250Glu
XR_241280.2:n.4947C>G (COL4A3)
XM_005246277.3:c.4882C>G (COL4A3)	XP_005246334.1:p.Gln1628Glu
XM_011510556.2:c.3748C>G (COL4A3)	XP_011508858.1:p.Gln1250Glu
XR_241280.3:n.4947C>G (COL4A3)
NM_000091.5:c.4987C>G (COL4A3) MANE Select	NP_000082.2:p.Gln1663Glu