Canonical Allele Identifier: CA2729124040
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs2139154956

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169952A>C , CM000675.2:g.110169952A>C GRCh38
NC_000013.10:g.110822299A>C , CM000675.1:g.110822299A>C GRCh37
NC_000013.9:g.109620300A>C NCBI36
NG_011544.2:g.142198T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3743-190T>G MANE Select ENSP00000364979.4:n.3743-190T>G
ENST00000375820.8:c.3743-190T>G ENSP00000364979.4:n.3743-190T>G
NM_001845.5:c.3743-190T>G NP_001836.3:n.3743-190T>G
XM_011521048.1:c.3551-190T>G XP_011519350.1:n.3551-190T>G
XM_011521048.2:c.3551-190T>G XP_011519350.1:n.3551-190T>G
NM_001845.6:c.3743-190T>G MANE Select NP_001836.3:n.3743-190T>G