Canonical Allele Identifier: CA2147687

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs754129578
• ExAC: 2:228176476 A / AT
• gnomAD v2: 2-228176476-A-AT
• gnomAD v3: 2-227311760-A-AT
• gnomAD v4: 2-227311760-A-AT
• MyVariant Identifiers: chr2:g.228176477_228176478insT (hg19) ; chr2:g.228176476_228176477insT (hg19) ; chr2:g.227311761_227311762insT (hg38) ; chr2:g.227311760_227311761insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311767dup , CM000664.2:g.227311767dup	GRCh38
NC_000002.11:g.228176483dup , CM000664.1:g.228176483dup	GRCh37
NC_000002.10:g.227884727dup	NCBI36
NG_011591.1:g.152203dup , LRG_230:g.152203dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.2187-19dup (COL4A3)
ENST00000682257.1:n.151-19dup (COL4A3)
ENST00000682970.1:n.227-19dup (COL4A3)
ENST00000683077.1:n.1868-19dup (COL4A3)
ENST00000684413.1:n.2496-19dup (COL4A3)
ENST00000684724.1:n.350-19dup (COL4A3)
ENST00000396578.8:c.4929-19dup (COL4A3) MANE Select	ENSP00000379823.3:n.4929-19dup
ENST00000469504.2:c.722-19dup (COL4A3)	ENSP00000493493.1:n.722-19dup
ENST00000643388.1:c.442-19dup (COL4A3)	ENSP00000495177.1:n.442-19dup
ENST00000396578.7:c.4929-19dup (COL4A3)	ENSP00000379823.3:n.4929-19dup
ENST00000469504.1:n.437-19dup (COL4A3)
NM_000091.4:c.4929-19dup , LRG_230t1:c.4929-19dup (COL4A3)	NP_000082.2:n.4929-19dup
NR_102371.1:n.48-6106dup (MFF-DT)
XM_005246276.2:c.4756-19dup (COL4A3)	XP_005246333.1:n.4756-19dup
XM_005246277.2:c.4824-19dup (COL4A3)	XP_005246334.1:n.4824-19dup
XM_011510556.1:c.3690-19dup (COL4A3)	XP_011508858.1:n.3690-19dup
XR_241280.2:n.4889-19dup (COL4A3)
XM_005246277.3:c.4824-19dup (COL4A3)	XP_005246334.1:n.4824-19dup
XM_011510556.2:c.3690-19dup (COL4A3)	XP_011508858.1:n.3690-19dup
XR_241280.3:n.4889-19dup (COL4A3)
NM_000091.5:c.4929-19dup (COL4A3) MANE Select	NP_000082.2:n.4929-19dup