Canonical Allele Identifier: CA2146812

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 2873008
• ClinVar RCV Id: RCV003709625
• dbSNP Id: rs770330826
• ExAC: 2:228141120 T / C
• gnomAD v2: 2-228141120-T-C
• gnomAD v4: 2-227276404-T-C
• MyVariant Identifiers: chr2:g.228141120T>C (hg19) ; chr2:g.227276404T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227276404T>C , CM000664.2:g.227276404T>C	GRCh38
NC_000002.11:g.228141120T>C , CM000664.1:g.228141120T>C	GRCh37
NC_000002.10:g.227849364T>C	NCBI36
NG_011591.1:g.116840T>C , LRG_230:g.116840T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.1947T>C (COL4A3) MANE Select	ENSP00000379823.3:p.Ser649=
ENST00000396578.7:c.1947T>C (COL4A3)	ENSP00000379823.3:p.Ser649=
NM_000091.4:c.1947T>C , LRG_230t1:c.1947T>C (COL4A3)	NP_000082.2:p.Ser649=
NR_102371.1:n.422+3079A>G (MFF-DT)
XM_005246276.2:c.1947T>C (COL4A3)	XP_005246333.1:p.Ser649=
XM_005246277.2:c.1947T>C (COL4A3)	XP_005246334.1:p.Ser649=
XM_005246280.2:c.1947T>C (COL4A3)	XP_005246337.1:p.Ser649=
XM_006712245.2:c.1947T>C (COL4A3)	XP_006712308.1:p.Ser649=
XM_011510555.1:c.1947T>C (COL4A3)	XP_011508857.1:p.Ser649=
XM_011510556.1:c.708T>C (COL4A3)	XP_011508858.1:p.Ser236=
XR_241280.2:n.2085T>C (COL4A3)
XM_005246277.3:c.1947T>C (COL4A3)	XP_005246334.1:p.Ser649=
XM_005246280.3:c.1947T>C (COL4A3)	XP_005246337.1:p.Ser649=
XM_006712245.3:c.1947T>C (COL4A3)	XP_006712308.1:p.Ser649=
XM_011510556.2:c.708T>C (COL4A3)	XP_011508858.1:p.Ser236=
XM_017003295.1:c.1947T>C (COL4A3)	XP_016858784.1:p.Ser649=
XR_001738601.1:n.2085T>C (COL4A3)
XR_241280.3:n.2085T>C (COL4A3)
NM_000091.5:c.1947T>C (COL4A3) MANE Select	NP_000082.2:p.Ser649=