Canonical Allele Identifier: CA350864970

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228173664C>G (hg19) ; chr2:g.227308948C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227308948C>G , CM000664.2:g.227308948C>G	GRCh38
NC_000002.11:g.228173664C>G , CM000664.1:g.228173664C>G	GRCh37
NC_000002.10:g.227881908C>G	NCBI36
NG_011591.1:g.149384C>G , LRG_230:g.149384C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1770C>G (COL4A3)
ENST00000684413.1:n.1952C>G (COL4A3)
ENST00000396578.8:c.4512C>G (COL4A3) MANE Select	ENSP00000379823.3:p.Phe1504Leu
ENST00000469504.2:c.434-256C>G (COL4A3)	ENSP00000493493.1:n.434-256C>G
ENST00000643388.1:c.198C>G (COL4A3)	ENSP00000495177.1:p.Phe66Leu
ENST00000396578.7:c.4512C>G (COL4A3)	ENSP00000379823.3:p.Phe1504Leu
ENST00000469504.1:n.149-256C>G (COL4A3)
NM_000091.4:c.4512C>G , LRG_230t1:c.4512C>G (COL4A3)	NP_000082.2:p.Phe1504Leu
NR_102371.1:n.48-3293G>C (MFF-DT)
XM_005246276.2:c.4512C>G (COL4A3)	XP_005246333.1:p.Phe1504Leu
XM_005246277.2:c.4407C>G (COL4A3)	XP_005246334.1:p.Phe1469Leu
XM_011510555.1:c.4512C>G (COL4A3)	XP_011508857.1:p.Phe1504Leu
XM_011510556.1:c.3273C>G (COL4A3)	XP_011508858.1:p.Phe1091Leu
XR_241280.2:n.4601-256C>G (COL4A3)
XM_005246277.3:c.4407C>G (COL4A3)	XP_005246334.1:p.Phe1469Leu
XM_011510556.2:c.3273C>G (COL4A3)	XP_011508858.1:p.Phe1091Leu
XR_241280.3:n.4601-256C>G (COL4A3)
NM_000091.5:c.4512C>G (COL4A3) MANE Select	NP_000082.2:p.Phe1504Leu