Canonical Allele Identifier: CA257970

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 17485
• ClinVar RCV Id: RCV000019037 ; RCV001851933
• dbSNP Id: rs121912825
• MyVariant Identifiers: chr2:g.228173723C>G (hg19) ; chr2:g.227309007C>G (hg38)
• PubMed: PMID:7987301 ; PMID:9195222

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309007C>G , CM000664.2:g.227309007C>G	GRCh38
NC_000002.11:g.228173723C>G , CM000664.1:g.228173723C>G	GRCh37
NC_000002.10:g.227881967C>G	NCBI36
NG_011591.1:g.149443C>G , LRG_230:g.149443C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.1829C>G (COL4A3)
ENST00000683077.1:n.53C>G (COL4A3)
ENST00000684413.1:n.2011C>G (COL4A3)
ENST00000396578.8:c.4571C>G (COL4A3) MANE Select	ENSP00000379823.3:p.Ser1524Ter
ENST00000469504.2:c.434-197C>G (COL4A3)	ENSP00000493493.1:n.434-197C>G
ENST00000643388.1:c.257C>G (COL4A3)	ENSP00000495177.1:p.Ser86Ter
ENST00000396578.7:c.4571C>G (COL4A3)	ENSP00000379823.3:p.Ser1524Ter
ENST00000469504.1:n.149-197C>G (COL4A3)
NM_000091.4:c.4571C>G , LRG_230t1:c.4571C>G (COL4A3)	NP_000082.2:p.Ser1524Ter
NR_102371.1:n.48-3352G>C (MFF-DT)
XM_005246276.2:c.4571C>G (COL4A3)	XP_005246333.1:p.Ser1524Ter
XM_005246277.2:c.4466C>G (COL4A3)	XP_005246334.1:p.Ser1489Ter
XM_011510555.1:c.4571C>G (COL4A3)	XP_011508857.1:p.Ser1524Ter
XM_011510556.1:c.3332C>G (COL4A3)	XP_011508858.1:p.Ser1111Ter
XR_241280.2:n.4601-197C>G (COL4A3)
XM_005246277.3:c.4466C>G (COL4A3)	XP_005246334.1:p.Ser1489Ter
XM_011510556.2:c.3332C>G (COL4A3)	XP_011508858.1:p.Ser1111Ter
XR_241280.3:n.4601-197C>G (COL4A3)
NM_000091.5:c.4571C>G (COL4A3) MANE Select	NP_000082.2:p.Ser1524Ter