Canonical Allele Identifier: CA350865696

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228173990C>T (hg19) ; chr2:g.227309274C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309274C>T , CM000664.2:g.227309274C>T	GRCh38
NC_000002.11:g.228173990C>T , CM000664.1:g.228173990C>T	GRCh37
NC_000002.10:g.227882234C>T	NCBI36
NG_011591.1:g.149710C>T , LRG_230:g.149710C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.1969C>T (COL4A3)
ENST00000682257.1:n.106C>T (COL4A3)
ENST00000682970.1:n.22C>T (COL4A3)
ENST00000683077.1:n.193C>T (COL4A3)
ENST00000684413.1:n.2278C>T (COL4A3)
ENST00000684724.1:n.132C>T (COL4A3)
ENST00000396578.8:c.4711C>T (COL4A3) MANE Select	ENSP00000379823.3:p.Pro1571Ser
ENST00000469504.2:c.504C>T (COL4A3)	ENSP00000493493.1:n.504C>T
ENST00000643388.1:c.397C>T (COL4A3)	ENSP00000495177.1:p.Pro133Ser
ENST00000396578.7:c.4711C>T (COL4A3)	ENSP00000379823.3:p.Pro1571Ser
ENST00000469504.1:n.219C>T (COL4A3)
NM_000091.4:c.4711C>T , LRG_230t1:c.4711C>T (COL4A3)	NP_000082.2:p.Pro1571Ser
NR_102371.1:n.48-3619G>A (MFF-DT)
XM_005246276.2:c.4711C>T (COL4A3)	XP_005246333.1:p.Pro1571Ser
XM_005246277.2:c.4606C>T (COL4A3)	XP_005246334.1:p.Pro1536Ser
XM_011510555.1:c.4711C>T (COL4A3)	XP_011508857.1:p.Pro1571Ser
XM_011510556.1:c.3472C>T (COL4A3)	XP_011508858.1:p.Pro1158Ser
XR_241280.2:n.4671C>T (COL4A3)
XM_005246277.3:c.4606C>T (COL4A3)	XP_005246334.1:p.Pro1536Ser
XM_011510556.2:c.3472C>T (COL4A3)	XP_011508858.1:p.Pro1158Ser
XR_241280.3:n.4671C>T (COL4A3)
NM_000091.5:c.4711C>T (COL4A3) MANE Select	NP_000082.2:p.Pro1571Ser