Canonical Allele Identifier: CA2623642418
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v4: 13-110166191-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110166191A>G , CM000675.2:g.110166191A>G GRCh38
NC_000013.10:g.110818538A>G , CM000675.1:g.110818538A>G GRCh37
NC_000013.9:g.109616539A>G NCBI36
NG_011544.2:g.145959T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.4021+41T>C MANE Select ENSP00000364979.4:n.4021+41T>C
ENST00000650424.1:c.177+41T>C
ENST00000375820.8:c.4021+41T>C ENSP00000364979.4:n.4021+41T>C
NM_001845.5:c.4021+41T>C NP_001836.3:n.4021+41T>C
XM_011521048.1:c.3829+41T>C XP_011519350.1:n.3829+41T>C
XM_011521048.2:c.3829+41T>C XP_011519350.1:n.3829+41T>C
NM_001845.6:c.4021+41T>C MANE Select NP_001836.3:n.4021+41T>C
Search 100 bp 5'
Search 100 bp 3'