Canonical Allele Identifier: CA765678886

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs1243679044
• gnomAD v3: 2-227312148-T-C
• gnomAD v4: 2-227312148-T-C
• MyVariant Identifiers: chr2:g.228176864T>C (hg19) ; chr2:g.227312148T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312148T>C , CM000664.2:g.227312148T>C	GRCh38
NC_000002.11:g.228176864T>C , CM000664.1:g.228176864T>C	GRCh37
NC_000002.10:g.227885108T>C	NCBI36
NG_011591.1:g.152584T>C , LRG_230:g.152584T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2549T>C (COL4A3)
ENST00000682257.1:n.513T>C (COL4A3)
ENST00000682970.1:n.589T>C (COL4A3)
ENST00000683077.1:n.2230T>C (COL4A3)
ENST00000684413.1:n.2858T>C (COL4A3)
ENST00000684724.1:n.712T>C (COL4A3)
ENST00000396578.8:c.*278T>C (COL4A3) MANE Select	ENSP00000379823.3:n.*278T>C
ENST00000396578.7:c.*278T>C (COL4A3)	ENSP00000379823.3:n.*278T>C
NM_000091.4:c.*278T>C , LRG_230t1:c.*278T>C (COL4A3)	NP_000082.2:n.*278T>C
NR_102371.1:n.48-6493A>G (MFF-DT)
XM_005246276.2:c.*204T>C (COL4A3)	XP_005246333.1:n.*204T>C
XM_005246277.2:c.*278T>C (COL4A3)	XP_005246334.1:n.*278T>C
XM_011510556.1:c.*278T>C (COL4A3)	XP_011508858.1:n.*278T>C
XR_241280.2:n.5251T>C (COL4A3)
XM_005246277.3:c.*278T>C (COL4A3)	XP_005246334.1:n.*278T>C
XM_011510556.2:c.*278T>C (COL4A3)	XP_011508858.1:n.*278T>C
XR_241280.3:n.5251T>C (COL4A3)
NM_000091.5:c.*278T>C (COL4A3) MANE Select	NP_000082.2:n.*278T>C