Canonical Allele Identifier: CA350866127

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228175555G>C (hg19) ; chr2:g.227310839G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227310839G>C , CM000664.2:g.227310839G>C	GRCh38
NC_000002.11:g.228175555G>C , CM000664.1:g.228175555G>C	GRCh37
NC_000002.10:g.227883799G>C	NCBI36
NG_011591.1:g.151275G>C , LRG_230:g.151275G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2077G>C (COL4A3)
ENST00000682257.1:n.151-947G>C (COL4A3)
ENST00000682970.1:n.117G>C (COL4A3)
ENST00000683077.1:n.1758G>C (COL4A3)
ENST00000684413.1:n.2386G>C (COL4A3)
ENST00000684724.1:n.240G>C (COL4A3)
ENST00000396578.8:c.4819G>C (COL4A3) MANE Select	ENSP00000379823.3:p.Glu1607Gln
ENST00000469504.2:c.612G>C (COL4A3)	ENSP00000493493.1:n.612G>C
ENST00000643388.1:c.442-947G>C (COL4A3)	ENSP00000495177.1:n.442-947G>C
ENST00000396578.7:c.4819G>C (COL4A3)	ENSP00000379823.3:p.Glu1607Gln
ENST00000469504.1:n.327G>C (COL4A3)
NM_000091.4:c.4819G>C , LRG_230t1:c.4819G>C (COL4A3)	NP_000082.2:p.Glu1607Gln
NR_102371.1:n.48-5184C>G (MFF-DT)
XM_005246276.2:c.4756-947G>C (COL4A3)	XP_005246333.1:n.4756-947G>C
XM_005246277.2:c.4714G>C (COL4A3)	XP_005246334.1:p.Glu1572Gln
XM_011510555.1:c.4806G>C (COL4A3)	XP_011508857.1:p.Lys1602Asn
XM_011510556.1:c.3580G>C (COL4A3)	XP_011508858.1:p.Glu1194Gln
XR_241280.2:n.4779G>C (COL4A3)
XM_005246277.3:c.4714G>C (COL4A3)	XP_005246334.1:p.Glu1572Gln
XM_011510556.2:c.3580G>C (COL4A3)	XP_011508858.1:p.Glu1194Gln
XR_241280.3:n.4779G>C (COL4A3)
NM_000091.5:c.4819G>C (COL4A3) MANE Select	NP_000082.2:p.Glu1607Gln