Canonical Allele Identifier: CA484788875

Gene: COL4A1

Linked Data

• MyVariant Identifiers: chr13:g.110822928T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170581T>G , CM000675.2:g.110170581T>G	GRCh38
NC_000013.10:g.110822928T>G , CM000675.1:g.110822928T>G	GRCh37
NC_000013.9:g.109620929T>G	NCBI36
NG_011544.2:g.141569A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3708A>C MANE Select	ENSP00000364979.4:p.Gly1236=
ENST00000375820.8:c.3708A>C	ENSP00000364979.4:p.Gly1236=
NM_001845.5:c.3708A>C	NP_001836.3:p.Gly1236=
XM_011521048.1:c.3516A>C	XP_011519350.1:p.Gly1172=
XM_011521048.2:c.3516A>C	XP_011519350.1:p.Gly1172=
NM_001845.6:c.3708A>C MANE Select	NP_001836.3:p.Gly1236=