Canonical Allele Identifier: CA2575453997
Gene: COL4A1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110166182A>G , CM000675.2:g.110166182A>G GRCh38
NC_000013.10:g.110818529A>G , CM000675.1:g.110818529A>G GRCh37
NC_000013.9:g.109616530A>G NCBI36
NG_011544.2:g.145968T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.4021+50T>C MANE Select ENSP00000364979.4:n.4021+50T>C
ENST00000650424.1:c.177+50T>C
ENST00000375820.8:c.4021+50T>C ENSP00000364979.4:n.4021+50T>C
NM_001845.5:c.4021+50T>C NP_001836.3:n.4021+50T>C
XM_011521048.1:c.3829+50T>C XP_011519350.1:n.3829+50T>C
XM_011521048.2:c.3829+50T>C XP_011519350.1:n.3829+50T>C
NM_001845.6:c.4021+50T>C MANE Select NP_001836.3:n.4021+50T>C
Search 100 bp 5'
Search 100 bp 3'