Canonical Allele Identifier: CA350864593

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 2905099
• ClinVar RCV Id: RCV003729562
• MyVariant Identifiers: chr2:g.228173635C>T (hg19) ; chr2:g.227308919C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227308919C>T , CM000664.2:g.227308919C>T	GRCh38
NC_000002.11:g.228173635C>T , CM000664.1:g.228173635C>T	GRCh37
NC_000002.10:g.227881879C>T	NCBI36
NG_011591.1:g.149355C>T , LRG_230:g.149355C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1741C>T (COL4A3)
ENST00000684413.1:n.1923C>T (COL4A3)
ENST00000396578.8:c.4483C>T (COL4A3) MANE Select	ENSP00000379823.3:p.Gln1495Ter
ENST00000469504.2:c.434-285C>T (COL4A3)	ENSP00000493493.1:n.434-285C>T
ENST00000643388.1:c.169C>T (COL4A3)	ENSP00000495177.1:p.Gln57Ter
ENST00000396578.7:c.4483C>T (COL4A3)	ENSP00000379823.3:p.Gln1495Ter
ENST00000469504.1:n.149-285C>T (COL4A3)
NM_000091.4:c.4483C>T , LRG_230t1:c.4483C>T (COL4A3)	NP_000082.2:p.Gln1495Ter
NR_102371.1:n.48-3264G>A (MFF-DT)
XM_005246276.2:c.4483C>T (COL4A3)	XP_005246333.1:p.Gln1495Ter
XM_005246277.2:c.4378C>T (COL4A3)	XP_005246334.1:p.Gln1460Ter
XM_011510555.1:c.4483C>T (COL4A3)	XP_011508857.1:p.Gln1495Ter
XM_011510556.1:c.3244C>T (COL4A3)	XP_011508858.1:p.Gln1082Ter
XR_241280.2:n.4601-285C>T (COL4A3)
XM_005246277.3:c.4378C>T (COL4A3)	XP_005246334.1:p.Gln1460Ter
XM_011510556.2:c.3244C>T (COL4A3)	XP_011508858.1:p.Gln1082Ter
XR_241280.3:n.4601-285C>T (COL4A3)
NM_000091.5:c.4483C>T (COL4A3) MANE Select	NP_000082.2:p.Gln1495Ter