Canonical Allele Identifier: CA350864908

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs2073627688
• gnomAD v4: 2-227308931-A-G
• MyVariant Identifiers: chr2:g.228173647A>G (hg19) ; chr2:g.227308931A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227308931A>G , CM000664.2:g.227308931A>G	GRCh38
NC_000002.11:g.228173647A>G , CM000664.1:g.228173647A>G	GRCh37
NC_000002.10:g.227881891A>G	NCBI36
NG_011591.1:g.149367A>G , LRG_230:g.149367A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1753A>G (COL4A3)
ENST00000684413.1:n.1935A>G (COL4A3)
ENST00000396578.8:c.4495A>G (COL4A3) MANE Select	ENSP00000379823.3:p.Thr1499Ala
ENST00000469504.2:c.434-273A>G (COL4A3)	ENSP00000493493.1:n.434-273A>G
ENST00000643388.1:c.181A>G (COL4A3)	ENSP00000495177.1:p.Thr61Ala
ENST00000396578.7:c.4495A>G (COL4A3)	ENSP00000379823.3:p.Thr1499Ala
ENST00000469504.1:n.149-273A>G (COL4A3)
NM_000091.4:c.4495A>G , LRG_230t1:c.4495A>G (COL4A3)	NP_000082.2:p.Thr1499Ala
NR_102371.1:n.48-3276T>C (MFF-DT)
XM_005246276.2:c.4495A>G (COL4A3)	XP_005246333.1:p.Thr1499Ala
XM_005246277.2:c.4390A>G (COL4A3)	XP_005246334.1:p.Thr1464Ala
XM_011510555.1:c.4495A>G (COL4A3)	XP_011508857.1:p.Thr1499Ala
XM_011510556.1:c.3256A>G (COL4A3)	XP_011508858.1:p.Thr1086Ala
XR_241280.2:n.4601-273A>G (COL4A3)
XM_005246277.3:c.4390A>G (COL4A3)	XP_005246334.1:p.Thr1464Ala
XM_011510556.2:c.3256A>G (COL4A3)	XP_011508858.1:p.Thr1086Ala
XR_241280.3:n.4601-273A>G (COL4A3)
NM_000091.5:c.4495A>G (COL4A3) MANE Select	NP_000082.2:p.Thr1499Ala