Canonical Allele Identifier: CA2146783

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 897875
• ClinVar RCV Id: RCV001141395
• dbSNP Id: rs767174856
• ExAC: 2:228137818 C / T
• gnomAD v2: 2-228137818-C-T
• gnomAD v4: 2-227273102-C-T
• MyVariant Identifiers: chr2:g.228137818C>T (hg19) ; chr2:g.227273102C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227273102C>T , CM000664.2:g.227273102C>T	GRCh38
NC_000002.11:g.228137818C>T , CM000664.1:g.228137818C>T	GRCh37
NC_000002.10:g.227846062C>T	NCBI36
NG_011591.1:g.113538C>T , LRG_230:g.113538C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396578.8:c.1912C>T (COL4A3) MANE Select	ENSP00000379823.3:p.Pro638Ser
ENST00000396578.7:c.1912C>T (COL4A3)	ENSP00000379823.3:p.Pro638Ser
NM_000091.4:c.1912C>T , LRG_230t1:c.1912C>T (COL4A3)	NP_000082.2:p.Pro638Ser
NR_102371.1:n.423-4333G>A (MFF-DT)
XM_005246276.2:c.1912C>T (COL4A3)	XP_005246333.1:p.Pro638Ser
XM_005246277.2:c.1912C>T (COL4A3)	XP_005246334.1:p.Pro638Ser
XM_005246280.2:c.1912C>T (COL4A3)	XP_005246337.1:p.Pro638Ser
XM_006712245.2:c.1912C>T (COL4A3)	XP_006712308.1:p.Pro638Ser
XM_011510555.1:c.1912C>T (COL4A3)	XP_011508857.1:p.Pro638Ser
XM_011510556.1:c.673C>T (COL4A3)	XP_011508858.1:p.Pro225Ser
XR_241280.2:n.2050C>T (COL4A3)
XM_005246277.3:c.1912C>T (COL4A3)	XP_005246334.1:p.Pro638Ser
XM_005246280.3:c.1912C>T (COL4A3)	XP_005246337.1:p.Pro638Ser
XM_006712245.3:c.1912C>T (COL4A3)	XP_006712308.1:p.Pro638Ser
XM_011510556.2:c.673C>T (COL4A3)	XP_011508858.1:p.Pro225Ser
XM_017003295.1:c.1912C>T (COL4A3)	XP_016858784.1:p.Pro638Ser
XR_001738601.1:n.2050C>T (COL4A3)
XR_241280.3:n.2050C>T (COL4A3)
NM_000091.5:c.1912C>T (COL4A3) MANE Select	NP_000082.2:p.Pro638Ser