Canonical Allele Identifier: CA484788874
Gene: COL4A1 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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