Canonical Allele Identifier: CA350865145

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228173714A>C (hg19) ; chr2:g.227308998A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227308998A>C , CM000664.2:g.227308998A>C	GRCh38
NC_000002.11:g.228173714A>C , CM000664.1:g.228173714A>C	GRCh37
NC_000002.10:g.227881958A>C	NCBI36
NG_011591.1:g.149434A>C , LRG_230:g.149434A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1820A>C (COL4A3)
ENST00000683077.1:n.44A>C (COL4A3)
ENST00000684413.1:n.2002A>C (COL4A3)
ENST00000396578.8:c.4562A>C (COL4A3) MANE Select	ENSP00000379823.3:p.Tyr1521Ser
ENST00000469504.2:c.434-206A>C (COL4A3)	ENSP00000493493.1:n.434-206A>C
ENST00000643388.1:c.248A>C (COL4A3)	ENSP00000495177.1:p.Tyr83Ser
ENST00000396578.7:c.4562A>C (COL4A3)	ENSP00000379823.3:p.Tyr1521Ser
ENST00000469504.1:n.149-206A>C (COL4A3)
NM_000091.4:c.4562A>C , LRG_230t1:c.4562A>C (COL4A3)	NP_000082.2:p.Tyr1521Ser
NR_102371.1:n.48-3343T>G (MFF-DT)
XM_005246276.2:c.4562A>C (COL4A3)	XP_005246333.1:p.Tyr1521Ser
XM_005246277.2:c.4457A>C (COL4A3)	XP_005246334.1:p.Tyr1486Ser
XM_011510555.1:c.4562A>C (COL4A3)	XP_011508857.1:p.Tyr1521Ser
XM_011510556.1:c.3323A>C (COL4A3)	XP_011508858.1:p.Tyr1108Ser
XR_241280.2:n.4601-206A>C (COL4A3)
XM_005246277.3:c.4457A>C (COL4A3)	XP_005246334.1:p.Tyr1486Ser
XM_011510556.2:c.3323A>C (COL4A3)	XP_011508858.1:p.Tyr1108Ser
XR_241280.3:n.4601-206A>C (COL4A3)
NM_000091.5:c.4562A>C (COL4A3) MANE Select	NP_000082.2:p.Tyr1521Ser