Canonical Allele Identifier: CA2147165

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 1310107
• ClinVar RCV Id: RCV001757175
• dbSNP Id: rs766420056
• ExAC: 2:228157948 A / T
• gnomAD v2: 2-228157948-A-T
• gnomAD v3: 2-227293232-A-T
• gnomAD v4: 2-227293232-A-T
• MyVariant Identifiers: chr2:g.228157948A>T (hg19) ; chr2:g.227293232A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227293232A>T , CM000664.2:g.227293232A>T	GRCh38
NC_000002.11:g.228157948A>T , CM000664.1:g.228157948A>T	GRCh37
NC_000002.10:g.227866192A>T	NCBI36
NG_011591.1:g.133668A>T , LRG_230:g.133668A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396578.8:c.3252A>T (COL4A3) MANE Select	ENSP00000379823.3:p.Glu1084Asp
ENST00000304990.8:c.363A>T (COL4A3)	ENSP00000302781.8:p.Glu121Asp
ENST00000396578.7:c.3252A>T (COL4A3)	ENSP00000379823.3:p.Glu1084Asp
NM_000091.4:c.3252A>T , LRG_230t1:c.3252A>T (COL4A3)	NP_000082.2:p.Glu1084Asp
NR_102371.1:n.244-11443T>A (MFF-DT)
XM_005246276.2:c.3252A>T (COL4A3)	XP_005246333.1:p.Glu1084Asp
XM_005246277.2:c.3147A>T (COL4A3)	XP_005246334.1:p.Glu1049Asp
XM_005246280.2:c.*19A>T (COL4A3)	XP_005246337.1:n.*19A>T
XM_006712245.2:c.3252A>T (COL4A3)	XP_006712308.1:p.Glu1084Asp
XM_011510555.1:c.3252A>T (COL4A3)	XP_011508857.1:p.Glu1084Asp
XM_011510556.1:c.2013A>T (COL4A3)	XP_011508858.1:p.Glu671Asp
XR_241280.2:n.3390A>T (COL4A3)
XM_005246277.3:c.3147A>T (COL4A3)	XP_005246334.1:p.Glu1049Asp
XM_005246280.3:c.*19A>T (COL4A3)	XP_005246337.1:n.*19A>T
XM_006712245.3:c.3252A>T (COL4A3)	XP_006712308.1:p.Glu1084Asp
XM_011510556.2:c.2013A>T (COL4A3)	XP_011508858.1:p.Glu671Asp
XM_017003295.1:c.3252A>T (COL4A3)	XP_016858784.1:p.Glu1084Asp
XR_001738601.1:n.3390A>T (COL4A3)
XR_241280.3:n.3390A>T (COL4A3)
NM_000091.5:c.3252A>T (COL4A3) MANE Select	NP_000082.2:p.Glu1084Asp