Canonical Allele Identifier: CA350855515

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228155488G>T (hg19) ; chr2:g.227290772G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227290772G>T , CM000664.2:g.227290772G>T	GRCh38
NC_000002.11:g.228155488G>T , CM000664.1:g.228155488G>T	GRCh37
NC_000002.10:g.227863732G>T	NCBI36
NG_011591.1:g.131208G>T , LRG_230:g.131208G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396578.8:c.3096G>T (COL4A3) MANE Select	ENSP00000379823.3:p.Leu1032Phe
ENST00000304990.8:c.207G>T (COL4A3)	ENSP00000302781.8:p.Leu69Phe
ENST00000396578.7:c.3096G>T (COL4A3)	ENSP00000379823.3:p.Leu1032Phe
ENST00000487633.1:n.257G>T (COL4A3)
NM_000091.4:c.3096G>T , LRG_230t1:c.3096G>T (COL4A3)	NP_000082.2:p.Leu1032Phe
NR_102371.1:n.244-8983C>A (MFF-DT)
XM_005246276.2:c.3096G>T (COL4A3)	XP_005246333.1:p.Leu1032Phe
XM_005246277.2:c.2991G>T (COL4A3)	XP_005246334.1:p.Leu997Phe
XM_005246280.2:c.3096G>T (COL4A3)	XP_005246337.1:p.Leu1032Phe
XM_006712245.2:c.3096G>T (COL4A3)	XP_006712308.1:p.Leu1032Phe
XM_011510555.1:c.3096G>T (COL4A3)	XP_011508857.1:p.Leu1032Phe
XM_011510556.1:c.1857G>T (COL4A3)	XP_011508858.1:p.Leu619Phe
XR_241280.2:n.3234G>T (COL4A3)
XM_005246277.3:c.2991G>T (COL4A3)	XP_005246334.1:p.Leu997Phe
XM_005246280.3:c.3096G>T (COL4A3)	XP_005246337.1:p.Leu1032Phe
XM_006712245.3:c.3096G>T (COL4A3)	XP_006712308.1:p.Leu1032Phe
XM_011510556.2:c.1857G>T (COL4A3)	XP_011508858.1:p.Leu619Phe
XM_017003295.1:c.3096G>T (COL4A3)	XP_016858784.1:p.Leu1032Phe
XR_001738601.1:n.3234G>T (COL4A3)
XR_241280.3:n.3234G>T (COL4A3)
NM_000091.5:c.3096G>T (COL4A3) MANE Select	NP_000082.2:p.Leu1032Phe