Canonical Allele Identifier: CA66623738

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs999931939
• gnomAD v4: 2-227312043-T-G
• MyVariant Identifiers: chr2:g.228176759T>G (hg19) ; chr2:g.227312043T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312043T>G , CM000664.2:g.227312043T>G	GRCh38
NC_000002.11:g.228176759T>G , CM000664.1:g.228176759T>G	GRCh37
NC_000002.10:g.227885003T>G	NCBI36
NG_011591.1:g.152479T>G , LRG_230:g.152479T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2444T>G (COL4A3)
ENST00000682257.1:n.408T>G (COL4A3)
ENST00000682970.1:n.484T>G (COL4A3)
ENST00000683077.1:n.2125T>G (COL4A3)
ENST00000684413.1:n.2753T>G (COL4A3)
ENST00000684724.1:n.607T>G (COL4A3)
ENST00000396578.8:c.*173T>G (COL4A3) MANE Select	ENSP00000379823.3:n.*173T>G
ENST00000396578.7:c.*173T>G (COL4A3)	ENSP00000379823.3:n.*173T>G
NM_000091.4:c.*173T>G , LRG_230t1:c.*173T>G (COL4A3)	NP_000082.2:n.*173T>G
NR_102371.1:n.48-6388A>C (MFF-DT)
XM_005246276.2:c.*99T>G (COL4A3)	XP_005246333.1:n.*99T>G
XM_005246277.2:c.*173T>G (COL4A3)	XP_005246334.1:n.*173T>G
XM_011510556.1:c.*173T>G (COL4A3)	XP_011508858.1:n.*173T>G
XR_241280.2:n.5146T>G (COL4A3)
XM_005246277.3:c.*173T>G (COL4A3)	XP_005246334.1:n.*173T>G
XM_011510556.2:c.*173T>G (COL4A3)	XP_011508858.1:n.*173T>G
XR_241280.3:n.5146T>G (COL4A3)
NM_000091.5:c.*173T>G (COL4A3) MANE Select	NP_000082.2:n.*173T>G