Canonical Allele Identifier: CA350865042

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227308967-T-G
• MyVariant Identifiers: chr2:g.228173683T>G (hg19) ; chr2:g.227308967T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227308967T>G , CM000664.2:g.227308967T>G	GRCh38
NC_000002.11:g.228173683T>G , CM000664.1:g.228173683T>G	GRCh37
NC_000002.10:g.227881927T>G	NCBI36
NG_011591.1:g.149403T>G , LRG_230:g.149403T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1789T>G (COL4A3)
ENST00000683077.1:n.13T>G (COL4A3)
ENST00000684413.1:n.1971T>G (COL4A3)
ENST00000396578.8:c.4531T>G (COL4A3) MANE Select	ENSP00000379823.3:p.Cys1511Gly
ENST00000469504.2:c.434-237T>G (COL4A3)	ENSP00000493493.1:n.434-237T>G
ENST00000643388.1:c.217T>G (COL4A3)	ENSP00000495177.1:p.Cys73Gly
ENST00000396578.7:c.4531T>G (COL4A3)	ENSP00000379823.3:p.Cys1511Gly
ENST00000469504.1:n.149-237T>G (COL4A3)
NM_000091.4:c.4531T>G , LRG_230t1:c.4531T>G (COL4A3)	NP_000082.2:p.Cys1511Gly
NR_102371.1:n.48-3312A>C (MFF-DT)
XM_005246276.2:c.4531T>G (COL4A3)	XP_005246333.1:p.Cys1511Gly
XM_005246277.2:c.4426T>G (COL4A3)	XP_005246334.1:p.Cys1476Gly
XM_011510555.1:c.4531T>G (COL4A3)	XP_011508857.1:p.Cys1511Gly
XM_011510556.1:c.3292T>G (COL4A3)	XP_011508858.1:p.Cys1098Gly
XR_241280.2:n.4601-237T>G (COL4A3)
XM_005246277.3:c.4426T>G (COL4A3)	XP_005246334.1:p.Cys1476Gly
XM_011510556.2:c.3292T>G (COL4A3)	XP_011508858.1:p.Cys1098Gly
XR_241280.3:n.4601-237T>G (COL4A3)
NM_000091.5:c.4531T>G (COL4A3) MANE Select	NP_000082.2:p.Cys1511Gly