Canonical Allele Identifier: CA350865378

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs1331156059
• gnomAD v2: 2-228173780-C-T
• gnomAD v3: 2-227309064-C-T
• gnomAD v4: 2-227309064-C-T
• MyVariant Identifiers: chr2:g.228173780C>T (hg19) ; chr2:g.227309064C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309064C>T , CM000664.2:g.227309064C>T	GRCh38
NC_000002.11:g.228173780C>T , CM000664.1:g.228173780C>T	GRCh37
NC_000002.10:g.227882024C>T	NCBI36
NG_011591.1:g.149500C>T , LRG_230:g.149500C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1886C>T (COL4A3)
ENST00000683077.1:n.110C>T (COL4A3)
ENST00000684413.1:n.2068C>T (COL4A3)
ENST00000684724.1:n.30C>T (COL4A3)
ENST00000396578.8:c.4628C>T (COL4A3) MANE Select	ENSP00000379823.3:p.Pro1543Leu
ENST00000469504.2:c.434-140C>T (COL4A3)	ENSP00000493493.1:n.434-140C>T
ENST00000643388.1:c.314C>T (COL4A3)	ENSP00000495177.1:p.Pro105Leu
ENST00000396578.7:c.4628C>T (COL4A3)	ENSP00000379823.3:p.Pro1543Leu
ENST00000469504.1:n.149-140C>T (COL4A3)
NM_000091.4:c.4628C>T , LRG_230t1:c.4628C>T (COL4A3)	NP_000082.2:p.Pro1543Leu
NR_102371.1:n.48-3409G>A (MFF-DT)
XM_005246276.2:c.4628C>T (COL4A3)	XP_005246333.1:p.Pro1543Leu
XM_005246277.2:c.4523C>T (COL4A3)	XP_005246334.1:p.Pro1508Leu
XM_011510555.1:c.4628C>T (COL4A3)	XP_011508857.1:p.Pro1543Leu
XM_011510556.1:c.3389C>T (COL4A3)	XP_011508858.1:p.Pro1130Leu
XR_241280.2:n.4601-140C>T (COL4A3)
XM_005246277.3:c.4523C>T (COL4A3)	XP_005246334.1:p.Pro1508Leu
XM_011510556.2:c.3389C>T (COL4A3)	XP_011508858.1:p.Pro1130Leu
XR_241280.3:n.4601-140C>T (COL4A3)
NM_000091.5:c.4628C>T (COL4A3) MANE Select	NP_000082.2:p.Pro1543Leu