Canonical Allele Identifier: CA350866739

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228176519C>G (hg19) ; chr2:g.227311803C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311803C>G , CM000664.2:g.227311803C>G	GRCh38
NC_000002.11:g.228176519C>G , CM000664.1:g.228176519C>G	GRCh37
NC_000002.10:g.227884763C>G	NCBI36
NG_011591.1:g.152239C>G , LRG_230:g.152239C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2204C>G (COL4A3)
ENST00000682257.1:n.168C>G (COL4A3)
ENST00000682970.1:n.244C>G (COL4A3)
ENST00000683077.1:n.1885C>G (COL4A3)
ENST00000684413.1:n.2513C>G (COL4A3)
ENST00000684724.1:n.367C>G (COL4A3)
ENST00000396578.8:c.4946C>G (COL4A3) MANE Select	ENSP00000379823.3:p.Thr1649Ser
ENST00000469504.2:c.739C>G (COL4A3)	ENSP00000493493.1:n.739C>G
ENST00000643388.1:c.459C>G (COL4A3)	ENSP00000495177.1:p.Asn153Lys
ENST00000396578.7:c.4946C>G (COL4A3)	ENSP00000379823.3:p.Thr1649Ser
ENST00000469504.1:n.454C>G (COL4A3)
NM_000091.4:c.4946C>G , LRG_230t1:c.4946C>G (COL4A3)	NP_000082.2:p.Thr1649Ser
NR_102371.1:n.48-6148G>C (MFF-DT)
XM_005246276.2:c.4773C>G (COL4A3)	XP_005246333.1:p.Asn1591Lys
XM_005246277.2:c.4841C>G (COL4A3)	XP_005246334.1:p.Thr1614Ser
XM_011510556.1:c.3707C>G (COL4A3)	XP_011508858.1:p.Thr1236Ser
XR_241280.2:n.4906C>G (COL4A3)
XM_005246277.3:c.4841C>G (COL4A3)	XP_005246334.1:p.Thr1614Ser
XM_011510556.2:c.3707C>G (COL4A3)	XP_011508858.1:p.Thr1236Ser
XR_241280.3:n.4906C>G (COL4A3)
NM_000091.5:c.4946C>G (COL4A3) MANE Select	NP_000082.2:p.Thr1649Ser