Canonical Allele Identifier: CA2147148

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs748734021
• ExAC: 2:228157877 G / A
• gnomAD v2: 2-228157877-G-A
• gnomAD v3: 2-227293161-G-A
• gnomAD v4: 2-227293161-G-A
• MyVariant Identifiers: chr2:g.228157877G>A (hg19) ; chr2:g.227293161G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227293161G>A , CM000664.2:g.227293161G>A	GRCh38
NC_000002.11:g.228157877G>A , CM000664.1:g.228157877G>A	GRCh37
NC_000002.10:g.227866121G>A	NCBI36
NG_011591.1:g.133597G>A , LRG_230:g.133597G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000396578.8:c.3211-30G>A (COL4A3) MANE Select	ENSP00000379823.3:n.3211-30G>A
ENST00000304990.8:c.322-30G>A (COL4A3)	ENSP00000302781.8:n.322-30G>A
ENST00000396578.7:c.3211-30G>A (COL4A3)	ENSP00000379823.3:n.3211-30G>A
NM_000091.4:c.3211-30G>A , LRG_230t1:c.3211-30G>A (COL4A3)	NP_000082.2:n.3211-30G>A
NR_102371.1:n.244-11372C>T (MFF-DT)
XM_005246276.2:c.3211-30G>A (COL4A3)	XP_005246333.1:n.3211-30G>A
XM_005246277.2:c.3106-30G>A (COL4A3)	XP_005246334.1:n.3106-30G>A
XM_005246280.2:c.3134-30G>A (COL4A3)	XP_005246337.1:n.3134-30G>A
XM_006712245.2:c.3211-30G>A (COL4A3)	XP_006712308.1:n.3211-30G>A
XM_011510555.1:c.3211-30G>A (COL4A3)	XP_011508857.1:n.3211-30G>A
XM_011510556.1:c.1972-30G>A (COL4A3)	XP_011508858.1:n.1972-30G>A
XR_241280.2:n.3349-30G>A (COL4A3)
XM_005246277.3:c.3106-30G>A (COL4A3)	XP_005246334.1:n.3106-30G>A
XM_005246280.3:c.3134-30G>A (COL4A3)	XP_005246337.1:n.3134-30G>A
XM_006712245.3:c.3211-30G>A (COL4A3)	XP_006712308.1:n.3211-30G>A
XM_011510556.2:c.1972-30G>A (COL4A3)	XP_011508858.1:n.1972-30G>A
XM_017003295.1:c.3211-30G>A (COL4A3)	XP_016858784.1:n.3211-30G>A
XR_001738601.1:n.3349-30G>A (COL4A3)
XR_241280.3:n.3349-30G>A (COL4A3)
NM_000091.5:c.3211-30G>A (COL4A3) MANE Select	NP_000082.2:n.3211-30G>A