Canonical Allele Identifier: CA236124

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 191151
• ClinVar RCV Id: RCV000171335 ; RCV002485088
• dbSNP Id: rs759739044
• MyVariant Identifiers: chr2:g.228168583G>A (hg19) ; chr2:g.227303867G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227303867G>A , CM000664.2:g.227303867G>A	GRCh38
NC_000002.11:g.228168583G>A , CM000664.1:g.228168583G>A	GRCh37
NC_000002.10:g.227876827G>A	NCBI36
NG_011591.1:g.144303G>A , LRG_230:g.144303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.382G>A (COL4A3)
ENST00000396578.8:c.3964G>A (COL4A3) MANE Select	ENSP00000379823.3:p.Gly1322Ser
ENST00000396578.7:c.3964G>A (COL4A3)	ENSP00000379823.3:p.Gly1322Ser
ENST00000468753.5:n.627G>A (COL4A3)
ENST00000471862.1:n.382G>A (COL4A3)
NM_000091.4:c.3964G>A , LRG_230t1:c.3964G>A (COL4A3)	NP_000082.2:p.Gly1322Ser
NR_102371.1:n.243+1593C>T (MFF-DT)
XM_005246276.2:c.3964G>A (COL4A3)	XP_005246333.1:p.Gly1322Ser
XM_005246277.2:c.3859G>A (COL4A3)	XP_005246334.1:p.Gly1287Ser
XM_011510555.1:c.3964G>A (COL4A3)	XP_011508857.1:p.Gly1322Ser
XM_011510556.1:c.2725G>A (COL4A3)	XP_011508858.1:p.Gly909Ser
XR_241280.2:n.4102G>A (COL4A3)
XM_005246277.3:c.3859G>A (COL4A3)	XP_005246334.1:p.Gly1287Ser
XM_011510556.2:c.2725G>A (COL4A3)	XP_011508858.1:p.Gly909Ser
XR_241280.3:n.4102G>A (COL4A3)
NM_000091.5:c.3964G>A (COL4A3) MANE Select	NP_000082.2:p.Gly1322Ser