Canonical Allele Identifier: CA2729124101

Gene: COL4A1

Linked Data

• dbSNP Id: rs2139154982

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169973dup , CM000675.2:g.110169973dup	GRCh38
NC_000013.10:g.110822320dup , CM000675.1:g.110822320dup	GRCh37
NC_000013.9:g.109620321dup	NCBI36
NG_011544.2:g.142180dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-208dup MANE Select	ENSP00000364979.4:n.3743-208dup
ENST00000375820.8:c.3743-208dup	ENSP00000364979.4:n.3743-208dup
NM_001845.5:c.3743-208dup	NP_001836.3:n.3743-208dup
XM_011521048.1:c.3551-208dup	XP_011519350.1:n.3551-208dup
XM_011521048.2:c.3551-208dup	XP_011519350.1:n.3551-208dup
NM_001845.6:c.3743-208dup MANE Select	NP_001836.3:n.3743-208dup