Canonical Allele Identifier: CA388661814
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110822042A>C (hg19) chr13:g.110169695A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169695A>C , CM000675.2:g.110169695A>C GRCh38
NC_000013.10:g.110822042A>C , CM000675.1:g.110822042A>C GRCh37
NC_000013.9:g.109620043A>C NCBI36
NG_011544.2:g.142455T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3810T>G MANE Select ENSP00000364979.4:p.Asn1270Lys
ENST00000375820.8:c.3810T>G ENSP00000364979.4:p.Asn1270Lys
NM_001845.5:c.3810T>G NP_001836.3:p.Asn1270Lys
XM_011521048.1:c.3618T>G XP_011519350.1:p.Asn1206Lys
XM_011521048.2:c.3618T>G XP_011519350.1:p.Asn1206Lys
NM_001845.6:c.3810T>G MANE Select NP_001836.3:p.Asn1270Lys
Search 100 bp 5'
Search 100 bp 3'