Canonical Allele Identifier: CA2147367

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 334776
• ClinVar RCV Id: RCV000275534 ; RCV000894814
• dbSNP Id: rs78980950
• ExAC: 2:228163538 G / A
• gnomAD v2: 2-228163538-G-A
• gnomAD v3: 2-227298822-G-A
• gnomAD v4: 2-227298822-G-A
• MyVariant Identifiers: chr2:g.228163538G>A (hg19) ; chr2:g.228163538_228163539delinsAA (hg19) ; chr2:g.227298822G>A (hg38) ; chr2:g.227298822_227298823delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227298822G>A , CM000664.2:g.227298822G>A	GRCh38
NC_000002.11:g.228163538G>A , CM000664.1:g.228163538G>A	GRCh37
NC_000002.10:g.227871782G>A	NCBI36
NG_011591.1:g.139258G>A , LRG_230:g.139258G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.300+10G>A (COL4A3)
ENST00000396578.8:c.3882+10G>A (COL4A3) MANE Select	ENSP00000379823.3:n.3882+10G>A
ENST00000396578.7:c.3882+10G>A (COL4A3)	ENSP00000379823.3:n.3882+10G>A
ENST00000468753.5:n.545+10G>A (COL4A3)
ENST00000471862.1:n.300+10G>A (COL4A3)
NM_000091.4:c.3882+10G>A , LRG_230t1:c.3882+10G>A (COL4A3)	NP_000082.2:n.3882+10G>A
NR_102371.1:n.243+6638C>T (MFF-DT)
XM_005246276.2:c.3882+10G>A (COL4A3)	XP_005246333.1:n.3882+10G>A
XM_005246277.2:c.3777+10G>A (COL4A3)	XP_005246334.1:n.3777+10G>A
XM_011510555.1:c.3882+10G>A (COL4A3)	XP_011508857.1:n.3882+10G>A
XM_011510556.1:c.2643+10G>A (COL4A3)	XP_011508858.1:n.2643+10G>A
XR_241280.2:n.4020+10G>A (COL4A3)
XM_005246277.3:c.3777+10G>A (COL4A3)	XP_005246334.1:n.3777+10G>A
XM_011510556.2:c.2643+10G>A (COL4A3)	XP_011508858.1:n.2643+10G>A
XR_241280.3:n.4020+10G>A (COL4A3)
NM_000091.5:c.3882+10G>A (COL4A3) MANE Select	NP_000082.2:n.3882+10G>A