Canonical Allele Identifier: CA388664802
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110827090G>A (hg19) chr13:g.110174743G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110174743G>A , CM000675.2:g.110174743G>A GRCh38
NC_000013.10:g.110827090G>A , CM000675.1:g.110827090G>A GRCh37
NC_000013.9:g.109625091G>A NCBI36
NG_011544.2:g.137407C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3205C>T MANE Select ENSP00000364979.4:p.Gln1069Ter
ENST00000375820.8:c.3205C>T ENSP00000364979.4:p.Gln1069Ter
NM_001845.5:c.3205C>T NP_001836.3:p.Gln1069Ter
XM_011521048.1:c.3013C>T XP_011519350.1:p.Gln1005Ter
XM_011521048.2:c.3013C>T XP_011519350.1:p.Gln1005Ter
NM_001845.6:c.3205C>T MANE Select NP_001836.3:p.Gln1069Ter
Search 100 bp 5'
Search 100 bp 3'