Canonical Allele Identifier: CA350857421

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228157949A>T (hg19) ; chr2:g.227293233A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227293233A>T , CM000664.2:g.227293233A>T	GRCh38
NC_000002.11:g.228157949A>T , CM000664.1:g.228157949A>T	GRCh37
NC_000002.10:g.227866193A>T	NCBI36
NG_011591.1:g.133669A>T , LRG_230:g.133669A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396578.8:c.3253A>T (COL4A3) MANE Select	ENSP00000379823.3:p.Met1085Leu
ENST00000304990.8:c.364A>T (COL4A3)	ENSP00000302781.8:p.Met122Leu
ENST00000396578.7:c.3253A>T (COL4A3)	ENSP00000379823.3:p.Met1085Leu
NM_000091.4:c.3253A>T , LRG_230t1:c.3253A>T (COL4A3)	NP_000082.2:p.Met1085Leu
NR_102371.1:n.244-11444T>A (MFF-DT)
XM_005246276.2:c.3253A>T (COL4A3)	XP_005246333.1:p.Met1085Leu
XM_005246277.2:c.3148A>T (COL4A3)	XP_005246334.1:p.Met1050Leu
XM_005246280.2:c.*20A>T (COL4A3)	XP_005246337.1:n.*20A>T
XM_006712245.2:c.3253A>T (COL4A3)	XP_006712308.1:p.Met1085Leu
XM_011510555.1:c.3253A>T (COL4A3)	XP_011508857.1:p.Met1085Leu
XM_011510556.1:c.2014A>T (COL4A3)	XP_011508858.1:p.Met672Leu
XR_241280.2:n.3391A>T (COL4A3)
XM_005246277.3:c.3148A>T (COL4A3)	XP_005246334.1:p.Met1050Leu
XM_005246280.3:c.*20A>T (COL4A3)	XP_005246337.1:n.*20A>T
XM_006712245.3:c.3253A>T (COL4A3)	XP_006712308.1:p.Met1085Leu
XM_011510556.2:c.2014A>T (COL4A3)	XP_011508858.1:p.Met672Leu
XM_017003295.1:c.3253A>T (COL4A3)	XP_016858784.1:p.Met1085Leu
XR_001738601.1:n.3391A>T (COL4A3)
XR_241280.3:n.3391A>T (COL4A3)
NM_000091.5:c.3253A>T (COL4A3) MANE Select	NP_000082.2:p.Met1085Leu