Canonical Allele Identifier: CA484788802
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v4: 13-110169749-G-A
MyVariant Identifiers: chr13:g.110822096G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169749G>A , CM000675.2:g.110169749G>A GRCh38
NC_000013.10:g.110822096G>A , CM000675.1:g.110822096G>A GRCh37
NC_000013.9:g.109620097G>A NCBI36
NG_011544.2:g.142401C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3756C>T MANE Select ENSP00000364979.4:p.Pro1252=
ENST00000375820.8:c.3756C>T ENSP00000364979.4:p.Pro1252=
NM_001845.5:c.3756C>T NP_001836.3:p.Pro1252=
XM_011521048.1:c.3564C>T XP_011519350.1:p.Pro1188=
XM_011521048.2:c.3564C>T XP_011519350.1:p.Pro1188=
NM_001845.6:c.3756C>T MANE Select NP_001836.3:p.Pro1252=
Search 100 bp 5'
Search 100 bp 3'