Canonical Allele Identifier: CA388664378
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2628754
ClinVar RCV Id: RCV004529686
dbSNP Id: rs1344641964

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110174476C>A , CM000675.2:g.110174476C>A GRCh38
NC_000013.10:g.110826823C>A , CM000675.1:g.110826823C>A GRCh37
NC_000013.9:g.109624824C>A NCBI36
NG_011544.2:g.137674G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3376G>T MANE Select ENSP00000364979.4:p.Asp1126Tyr
ENST00000375820.8:c.3376G>T ENSP00000364979.4:p.Asp1126Tyr
NM_001845.5:c.3376G>T NP_001836.3:p.Asp1126Tyr
XM_011521048.1:c.3184G>T XP_011519350.1:p.Asp1062Tyr
XM_011521048.2:c.3184G>T XP_011519350.1:p.Asp1062Tyr
NM_001845.6:c.3376G>T MANE Select NP_001836.3:p.Asp1126Tyr