Canonical Allele Identifier: CA2739280024

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227307703T>C , CM000664.2:g.227307703T>C	GRCh38
NC_000002.11:g.228172419T>C , CM000664.1:g.228172419T>C	GRCh37
NC_000002.10:g.227880663T>C	NCBI36
NG_011591.1:g.148139T>C , LRG_230:g.148139T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.4253-7T>C (COL4A3) MANE Select	NP_000082.2:n.4253-7T>C
ENST00000396578.8:c.4253-7T>C (COL4A3) MANE Select	ENSP00000379823.3:n.4253-7T>C
NM_000091.4:c.4253-7T>C , LRG_230t1:c.4253-7T>C (COL4A3)	NP_000082.2:n.4253-7T>C
NR_102371.1:n.48-2048A>G (MFF-DT)
ENST00000396578.7:c.4253-7T>C (COL4A3)	ENSP00000379823.3:n.4253-7T>C
ENST00000469504.2:c.224-7T>C (COL4A3)	ENSP00000493493.1:n.224-7T>C
ENST00000471862.2:n.1511-7T>C (COL4A3)
ENST00000684413.1:n.720-13T>C (COL4A3)
XM_005246276.2:c.4253-7T>C (COL4A3)	XP_005246333.1:n.4253-7T>C
XM_005246277.2:c.4148-7T>C (COL4A3)	XP_005246334.1:n.4148-7T>C
XM_005246277.3:c.4148-7T>C (COL4A3)	XP_005246334.1:n.4148-7T>C
XM_011510555.1:c.4253-7T>C (COL4A3)	XP_011508857.1:n.4253-7T>C
XM_011510556.1:c.3014-7T>C (COL4A3)	XP_011508858.1:n.3014-7T>C
XM_011510556.2:c.3014-7T>C (COL4A3)	XP_011508858.1:n.3014-7T>C
XR_241280.2:n.4391-7T>C (COL4A3)
XR_241280.3:n.4391-7T>C (COL4A3)