Canonical Allele Identifier: CA388661696

Gene: COL4A1

Linked Data

• MyVariant Identifiers: chr13:g.110821985C>A (hg19) ; chr13:g.110169638C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169638C>A , CM000675.2:g.110169638C>A	GRCh38
NC_000013.10:g.110821985C>A , CM000675.1:g.110821985C>A	GRCh37
NC_000013.9:g.109619986C>A	NCBI36
NG_011544.2:g.142512G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3867G>T MANE Select	ENSP00000364979.4:p.Gln1289His
ENST00000650424.1:c.23G>T
ENST00000375820.8:c.3867G>T	ENSP00000364979.4:p.Gln1289His
NM_001845.5:c.3867G>T	NP_001836.3:p.Gln1289His
XM_011521048.1:c.3675G>T	XP_011519350.1:p.Gln1225His
XM_011521048.2:c.3675G>T	XP_011519350.1:p.Gln1225His
NM_001845.6:c.3867G>T MANE Select	NP_001836.3:p.Gln1289His