Canonical Allele Identifier: CA350866724

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228176512C>G (hg19) ; chr2:g.227311796C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311796C>G , CM000664.2:g.227311796C>G	GRCh38
NC_000002.11:g.228176512C>G , CM000664.1:g.228176512C>G	GRCh37
NC_000002.10:g.227884756C>G	NCBI36
NG_011591.1:g.152232C>G , LRG_230:g.152232C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2197C>G (COL4A3)
ENST00000682257.1:n.161C>G (COL4A3)
ENST00000682970.1:n.237C>G (COL4A3)
ENST00000683077.1:n.1878C>G (COL4A3)
ENST00000684413.1:n.2506C>G (COL4A3)
ENST00000684724.1:n.360C>G (COL4A3)
ENST00000396578.8:c.4939C>G (COL4A3) MANE Select	ENSP00000379823.3:p.Pro1647Ala
ENST00000469504.2:c.732C>G (COL4A3)	ENSP00000493493.1:n.732C>G
ENST00000643388.1:c.452C>G (COL4A3)	ENSP00000495177.1:p.Ser151Cys
ENST00000396578.7:c.4939C>G (COL4A3)	ENSP00000379823.3:p.Pro1647Ala
ENST00000469504.1:n.447C>G (COL4A3)
NM_000091.4:c.4939C>G , LRG_230t1:c.4939C>G (COL4A3)	NP_000082.2:p.Pro1647Ala
NR_102371.1:n.48-6141G>C (MFF-DT)
XM_005246276.2:c.4766C>G (COL4A3)	XP_005246333.1:p.Ser1589Cys
XM_005246277.2:c.4834C>G (COL4A3)	XP_005246334.1:p.Pro1612Ala
XM_011510556.1:c.3700C>G (COL4A3)	XP_011508858.1:p.Pro1234Ala
XR_241280.2:n.4899C>G (COL4A3)
XM_005246277.3:c.4834C>G (COL4A3)	XP_005246334.1:p.Pro1612Ala
XM_011510556.2:c.3700C>G (COL4A3)	XP_011508858.1:p.Pro1234Ala
XR_241280.3:n.4899C>G (COL4A3)
NM_000091.5:c.4939C>G (COL4A3) MANE Select	NP_000082.2:p.Pro1647Ala