Canonical Allele Identifier: CA2147716

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs779537736
• ExAC: 2:228176700 T / G
• gnomAD v2: 2-228176700-T-G
• gnomAD v4: 2-227311984-T-G
• MyVariant Identifiers: chr2:g.228176700T>G (hg19) ; chr2:g.227311984T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311984T>G , CM000664.2:g.227311984T>G	GRCh38
NC_000002.11:g.228176700T>G , CM000664.1:g.228176700T>G	GRCh37
NC_000002.10:g.227884944T>G	NCBI36
NG_011591.1:g.152420T>G , LRG_230:g.152420T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2385T>G (COL4A3)
ENST00000682257.1:n.349T>G (COL4A3)
ENST00000682970.1:n.425T>G (COL4A3)
ENST00000683077.1:n.2066T>G (COL4A3)
ENST00000684413.1:n.2694T>G (COL4A3)
ENST00000684724.1:n.548T>G (COL4A3)
ENST00000396578.8:c.*114T>G (COL4A3) MANE Select	ENSP00000379823.3:n.*114T>G
ENST00000396578.7:c.*114T>G (COL4A3)	ENSP00000379823.3:n.*114T>G
NM_000091.4:c.*114T>G , LRG_230t1:c.*114T>G (COL4A3)	NP_000082.2:n.*114T>G
NR_102371.1:n.48-6329A>C (MFF-DT)
XM_005246276.2:c.*40T>G (COL4A3)	XP_005246333.1:n.*40T>G
XM_005246277.2:c.*114T>G (COL4A3)	XP_005246334.1:n.*114T>G
XM_011510556.1:c.*114T>G (COL4A3)	XP_011508858.1:n.*114T>G
XR_241280.2:n.5087T>G (COL4A3)
XM_005246277.3:c.*114T>G (COL4A3)	XP_005246334.1:n.*114T>G
XM_011510556.2:c.*114T>G (COL4A3)	XP_011508858.1:n.*114T>G
XR_241280.3:n.5087T>G (COL4A3)
NM_000091.5:c.*114T>G (COL4A3) MANE Select	NP_000082.2:n.*114T>G