Canonical Allele Identifier: CA350849631

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs1339422678
• gnomAD v2: 2-228145702-A-G
• gnomAD v4: 2-227280986-A-G
• MyVariant Identifiers: chr2:g.228145702A>G (hg19) ; chr2:g.227280986A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227280986A>G , CM000664.2:g.227280986A>G	GRCh38
NC_000002.11:g.228145702A>G , CM000664.1:g.228145702A>G	GRCh37
NC_000002.10:g.227853946A>G	NCBI36
NG_011591.1:g.121422A>G , LRG_230:g.121422A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.2468A>G (COL4A3) MANE Select	ENSP00000379823.3:p.Asn823Ser
ENST00000396578.7:c.2468A>G (COL4A3)	ENSP00000379823.3:p.Asn823Ser
NM_000091.4:c.2468A>G , LRG_230t1:c.2468A>G (COL4A3)	NP_000082.2:p.Asn823Ser
NR_102371.1:n.329+718T>C (MFF-DT)
XM_005246276.2:c.2468A>G (COL4A3)	XP_005246333.1:p.Asn823Ser
XM_005246277.2:c.2363A>G (COL4A3)	XP_005246334.1:p.Asn788Ser
XM_005246280.2:c.2468A>G (COL4A3)	XP_005246337.1:p.Asn823Ser
XM_006712245.2:c.2468A>G (COL4A3)	XP_006712308.1:p.Asn823Ser
XM_011510555.1:c.2468A>G (COL4A3)	XP_011508857.1:p.Asn823Ser
XM_011510556.1:c.1229A>G (COL4A3)	XP_011508858.1:p.Asn410Ser
XR_241280.2:n.2606A>G (COL4A3)
XM_005246277.3:c.2363A>G (COL4A3)	XP_005246334.1:p.Asn788Ser
XM_005246280.3:c.2468A>G (COL4A3)	XP_005246337.1:p.Asn823Ser
XM_006712245.3:c.2468A>G (COL4A3)	XP_006712308.1:p.Asn823Ser
XM_011510556.2:c.1229A>G (COL4A3)	XP_011508858.1:p.Asn410Ser
XM_017003295.1:c.2468A>G (COL4A3)	XP_016858784.1:p.Asn823Ser
XR_001738601.1:n.2606A>G (COL4A3)
XR_241280.3:n.2606A>G (COL4A3)
NM_000091.5:c.2468A>G (COL4A3) MANE Select	NP_000082.2:p.Asn823Ser