Canonical Allele Identifier: CA2838346762

Gene: MATN4

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45297831C>T , CM000682.2:g.45297831C>T	GRCh38
NC_000020.10:g.43926471C>T , CM000682.1:g.43926471C>T	GRCh37
NC_000020.9:g.43359885C>T	NCBI36
NG_033953.1:g.15699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372756.6:c.1579+87G>A MANE Select	ENSP00000361842.1:n.1579+87G>A
ENST00000686119.1:c.*1386+87G>A	ENSP00000510496.1:n.*1386+87G>A
ENST00000353917.10:c.1333+87G>A	ENSP00000243983.5:n.1333+87G>A
ENST00000537548.3:c.1579+87G>A	ENSP00000440328.1:n.1579+87G>A
ENST00000353917.9:c.1333+87G>A	ENSP00000243983.5:n.1333+87G>A
ENST00000360607.10:c.1456+87G>A	ENSP00000353819.5:n.1456+87G>A
ENST00000372754.5:c.1702+87G>A	ENSP00000361840.1:n.1702+87G>A
ENST00000372756.5:c.1579+87G>A	ENSP00000361842.1:n.1579+87G>A
ENST00000537548.2:c.1579+87G>A	ENSP00000440328.1:n.1579+87G>A
NM_003833.4:c.1579+87G>A	NP_003824.2:n.1579+87G>A
NM_030590.3:c.1456+87G>A	NP_085080.1:n.1456+87G>A
NM_030592.3:c.1333+87G>A	NP_085095.1:n.1333+87G>A
XM_005260597.1:c.1579+87G>A	XP_005260654.1:n.1579+87G>A
XM_017028113.1:c.1579+87G>A	XP_016883602.1:n.1579+87G>A
XM_017028114.1:c.1456+87G>A	XP_016883603.1:n.1456+87G>A
XM_017028115.1:c.1333+87G>A	XP_016883604.1:n.1333+87G>A
NM_030590.4:c.1456+87G>A	NP_085080.1:n.1456+87G>A
NM_001393530.1:c.1579+87G>A MANE Select	NP_001380459.1:n.1579+87G>A
NM_001393531.1:c.1579+87G>A	NP_001380460.1:n.1579+87G>A
NM_003833.5:c.1579+87G>A	NP_003824.2:n.1579+87G>A
NM_030592.4:c.1333+87G>A	NP_085095.1:n.1333+87G>A