Canonical Allele Identifier: CA2118732994

Gene: COL4A1

Linked Data

• dbSNP Id: rs1877530695

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169926_110169944dup , CM000675.2:g.110169926_110169944dup	GRCh38
NC_000013.10:g.110822273_110822291dup , CM000675.1:g.110822273_110822291dup	GRCh37
NC_000013.9:g.109620274_109620292dup	NCBI36
NG_011544.2:g.142209_142227dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-179_3743-161dup MANE Select	ENSP00000364979.4:n.3743-179_3743-161dup
ENST00000375820.8:c.3743-179_3743-161dup	ENSP00000364979.4:n.3743-179_3743-161dup
NM_001845.5:c.3743-179_3743-161dup	NP_001836.3:n.3743-179_3743-161dup
XM_011521048.1:c.3551-179_3551-161dup	XP_011519350.1:n.3551-179_3551-161dup
XM_011521048.2:c.3551-179_3551-161dup	XP_011519350.1:n.3551-179_3551-161dup
NM_001845.6:c.3743-179_3743-161dup MANE Select	NP_001836.3:n.3743-179_3743-161dup