Canonical Allele Identifier: CA539907239

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs1247836086
• gnomAD v2: 2-228176479-T-C
• gnomAD v3: 2-227311763-T-C
• gnomAD v4: 2-227311763-T-C
• MyVariant Identifiers: chr2:g.228176479T>C (hg19) ; chr2:g.227311763T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311763T>C , CM000664.2:g.227311763T>C	GRCh38
NC_000002.11:g.228176479T>C , CM000664.1:g.228176479T>C	GRCh37
NC_000002.10:g.227884723T>C	NCBI36
NG_011591.1:g.152199T>C , LRG_230:g.152199T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.2187-23T>C (COL4A3)
ENST00000682257.1:n.151-23T>C (COL4A3)
ENST00000682970.1:n.227-23T>C (COL4A3)
ENST00000683077.1:n.1868-23T>C (COL4A3)
ENST00000684413.1:n.2496-23T>C (COL4A3)
ENST00000684724.1:n.350-23T>C (COL4A3)
ENST00000396578.8:c.4929-23T>C (COL4A3) MANE Select	ENSP00000379823.3:n.4929-23T>C
ENST00000469504.2:c.722-23T>C (COL4A3)	ENSP00000493493.1:n.722-23T>C
ENST00000643388.1:c.442-23T>C (COL4A3)	ENSP00000495177.1:n.442-23T>C
ENST00000396578.7:c.4929-23T>C (COL4A3)	ENSP00000379823.3:n.4929-23T>C
ENST00000469504.1:n.437-23T>C (COL4A3)
NM_000091.4:c.4929-23T>C , LRG_230t1:c.4929-23T>C (COL4A3)	NP_000082.2:n.4929-23T>C
NR_102371.1:n.48-6108A>G (MFF-DT)
XM_005246276.2:c.4756-23T>C (COL4A3)	XP_005246333.1:n.4756-23T>C
XM_005246277.2:c.4824-23T>C (COL4A3)	XP_005246334.1:n.4824-23T>C
XM_011510556.1:c.3690-23T>C (COL4A3)	XP_011508858.1:n.3690-23T>C
XR_241280.2:n.4889-23T>C (COL4A3)
XM_005246277.3:c.4824-23T>C (COL4A3)	XP_005246334.1:n.4824-23T>C
XM_011510556.2:c.3690-23T>C (COL4A3)	XP_011508858.1:n.3690-23T>C
XR_241280.3:n.4889-23T>C (COL4A3)
NM_000091.5:c.4929-23T>C (COL4A3) MANE Select	NP_000082.2:n.4929-23T>C