Canonical Allele Identifier: CA2118736917
Gene: COL4A1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173842C= , CM000675.2:g.110173842C= GRCh38
NC_000013.10:g.110826189C= , CM000675.1:g.110826189C= GRCh37
NC_000013.9:g.109624190C= NCBI36
NG_011544.2:g.138308G=

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3505+58G= MANE Select ENSP00000364979.4:n.3505+58G=
ENST00000375820.8:c.3505+58G= ENSP00000364979.4:n.3505+58G=
NM_001845.5:c.3505+58G= NP_001836.3:n.3505+58G=
XM_011521048.1:c.3313+58G= XP_011519350.1:n.3313+58G=
XM_011521048.2:c.3313+58G= XP_011519350.1:n.3313+58G=
NM_001845.6:c.3505+58G= MANE Select NP_001836.3:n.3505+58G=
Search 100 bp 5'
Search 100 bp 3'