Canonical Allele Identifier: CA388661688
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110821981T>A (hg19) chr13:g.110169634T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169634T>A , CM000675.2:g.110169634T>A GRCh38
NC_000013.10:g.110821981T>A , CM000675.1:g.110821981T>A GRCh37
NC_000013.9:g.109619982T>A NCBI36
NG_011544.2:g.142516A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3871A>T MANE Select ENSP00000364979.4:p.Met1291Leu
ENST00000650424.1:c.27A>T
ENST00000375820.8:c.3871A>T ENSP00000364979.4:p.Met1291Leu
NM_001845.5:c.3871A>T NP_001836.3:p.Met1291Leu
XM_011521048.1:c.3679A>T XP_011519350.1:p.Met1227Leu
XM_011521048.2:c.3679A>T XP_011519350.1:p.Met1227Leu
NM_001845.6:c.3871A>T MANE Select NP_001836.3:p.Met1291Leu
Search 100 bp 5'
Search 100 bp 3'