Canonical Allele Identifier: CA256250954
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs910419640
gnomAD v4: 13-110169891-T-C
MyVariant Identifiers: chr13:g.110822238T>C (hg19) chr13:g.110169891T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169891T>C , CM000675.2:g.110169891T>C GRCh38
NC_000013.10:g.110822238T>C , CM000675.1:g.110822238T>C GRCh37
NC_000013.9:g.109620239T>C NCBI36
NG_011544.2:g.142259A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3743-129A>G MANE Select ENSP00000364979.4:n.3743-129A>G
ENST00000375820.8:c.3743-129A>G ENSP00000364979.4:n.3743-129A>G
NM_001845.5:c.3743-129A>G NP_001836.3:n.3743-129A>G
XM_011521048.1:c.3551-129A>G XP_011519350.1:n.3551-129A>G
XM_011521048.2:c.3551-129A>G XP_011519350.1:n.3551-129A>G
NM_001845.6:c.3743-129A>G MANE Select NP_001836.3:n.3743-129A>G
Search 100 bp 5'
Search 100 bp 3'