Canonical Allele Identifier: CA2118737608
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110174494T= , CM000675.2:g.110174494T= GRCh38
NC_000013.10:g.110826841T= , CM000675.1:g.110826841T= GRCh37
NC_000013.9:g.109624842T= NCBI36
NG_011544.2:g.137656A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3358A= MANE Select ENSP00000364979.4:p.Lys1120=
ENST00000375820.8:c.3358A= ENSP00000364979.4:p.Lys1120=
NM_001845.5:c.3358A= NP_001836.3:p.Lys1120=
XM_011521048.1:c.3166A= XP_011519350.1:p.Lys1056=
XM_011521048.2:c.3166A= XP_011519350.1:p.Lys1056=
NM_001845.6:c.3358A= MANE Select NP_001836.3:p.Lys1120=