Canonical Allele Identifier: CA2118736898
Gene: COL4A1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173817T= , CM000675.2:g.110173817T= GRCh38
NC_000013.10:g.110826164T= , CM000675.1:g.110826164T= GRCh37
NC_000013.9:g.109624165T= NCBI36
NG_011544.2:g.138333A=

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3505+83A= MANE Select ENSP00000364979.4:n.3505+83A=
ENST00000375820.8:c.3505+83A= ENSP00000364979.4:n.3505+83A=
NM_001845.5:c.3505+83A= NP_001836.3:n.3505+83A=
XM_011521048.1:c.3313+83A= XP_011519350.1:n.3313+83A=
XM_011521048.2:c.3313+83A= XP_011519350.1:n.3313+83A=
NM_001845.6:c.3505+83A= MANE Select NP_001836.3:n.3505+83A=
Search 100 bp 5'
Search 100 bp 3'