Canonical Allele Identifier: CA2663419514

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227293138-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227293138T>C , CM000664.2:g.227293138T>C	GRCh38
NC_000002.11:g.228157854T>C , CM000664.1:g.228157854T>C	GRCh37
NC_000002.10:g.227866098T>C	NCBI36
NG_011591.1:g.133574T>C , LRG_230:g.133574T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000396578.8:c.3211-53T>C (COL4A3) MANE Select	ENSP00000379823.3:n.3211-53T>C
ENST00000304990.8:c.322-53T>C (COL4A3)	ENSP00000302781.8:n.322-53T>C
ENST00000396578.7:c.3211-53T>C (COL4A3)	ENSP00000379823.3:n.3211-53T>C
NM_000091.4:c.3211-53T>C , LRG_230t1:c.3211-53T>C (COL4A3)	NP_000082.2:n.3211-53T>C
NR_102371.1:n.244-11349A>G (MFF-DT)
XM_005246276.2:c.3211-53T>C (COL4A3)	XP_005246333.1:n.3211-53T>C
XM_005246277.2:c.3106-53T>C (COL4A3)	XP_005246334.1:n.3106-53T>C
XM_005246280.2:c.3134-53T>C (COL4A3)	XP_005246337.1:n.3134-53T>C
XM_006712245.2:c.3211-53T>C (COL4A3)	XP_006712308.1:n.3211-53T>C
XM_011510555.1:c.3211-53T>C (COL4A3)	XP_011508857.1:n.3211-53T>C
XM_011510556.1:c.1972-53T>C (COL4A3)	XP_011508858.1:n.1972-53T>C
XR_241280.2:n.3349-53T>C (COL4A3)
XM_005246277.3:c.3106-53T>C (COL4A3)	XP_005246334.1:n.3106-53T>C
XM_005246280.3:c.3134-53T>C (COL4A3)	XP_005246337.1:n.3134-53T>C
XM_006712245.3:c.3211-53T>C (COL4A3)	XP_006712308.1:n.3211-53T>C
XM_011510556.2:c.1972-53T>C (COL4A3)	XP_011508858.1:n.1972-53T>C
XM_017003295.1:c.3211-53T>C (COL4A3)	XP_016858784.1:n.3211-53T>C
XR_001738601.1:n.3349-53T>C (COL4A3)
XR_241280.3:n.3349-53T>C (COL4A3)
NM_000091.5:c.3211-53T>C (COL4A3) MANE Select	NP_000082.2:n.3211-53T>C