Canonical Allele Identifier: CA350865349

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs745660430
• gnomAD v2: 2-228173771-C-G
• MyVariant Identifiers: chr2:g.228173771C>G (hg19) ; chr2:g.227309055C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309055C>G , CM000664.2:g.227309055C>G	GRCh38
NC_000002.11:g.228173771C>G , CM000664.1:g.228173771C>G	GRCh37
NC_000002.10:g.227882015C>G	NCBI36
NG_011591.1:g.149491C>G , LRG_230:g.149491C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1877C>G (COL4A3)
ENST00000683077.1:n.101C>G (COL4A3)
ENST00000684413.1:n.2059C>G (COL4A3)
ENST00000684724.1:n.21C>G (COL4A3)
ENST00000396578.8:c.4619C>G (COL4A3) MANE Select	ENSP00000379823.3:p.Ala1540Gly
ENST00000469504.2:c.434-149C>G (COL4A3)	ENSP00000493493.1:n.434-149C>G
ENST00000643388.1:c.305C>G (COL4A3)	ENSP00000495177.1:p.Ala102Gly
ENST00000396578.7:c.4619C>G (COL4A3)	ENSP00000379823.3:p.Ala1540Gly
ENST00000469504.1:n.149-149C>G (COL4A3)
NM_000091.4:c.4619C>G , LRG_230t1:c.4619C>G (COL4A3)	NP_000082.2:p.Ala1540Gly
NR_102371.1:n.48-3400G>C (MFF-DT)
XM_005246276.2:c.4619C>G (COL4A3)	XP_005246333.1:p.Ala1540Gly
XM_005246277.2:c.4514C>G (COL4A3)	XP_005246334.1:p.Ala1505Gly
XM_011510555.1:c.4619C>G (COL4A3)	XP_011508857.1:p.Ala1540Gly
XM_011510556.1:c.3380C>G (COL4A3)	XP_011508858.1:p.Ala1127Gly
XR_241280.2:n.4601-149C>G (COL4A3)
XM_005246277.3:c.4514C>G (COL4A3)	XP_005246334.1:p.Ala1505Gly
XM_011510556.2:c.3380C>G (COL4A3)	XP_011508858.1:p.Ala1127Gly
XR_241280.3:n.4601-149C>G (COL4A3)
NM_000091.5:c.4619C>G (COL4A3) MANE Select	NP_000082.2:p.Ala1540Gly