Canonical Allele Identifier: CA960161726
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs1877779130
gnomAD v3: 13-110174369-G-A
gnomAD v4: 13-110174369-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110174369G>A , CM000675.2:g.110174369G>A GRCh38
NC_000013.10:g.110826716G>A , CM000675.1:g.110826716G>A GRCh37
NC_000013.9:g.109624717G>A NCBI36
NG_011544.2:g.137781C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3406+77C>T MANE Select ENSP00000364979.4:n.3406+77C>T
ENST00000375820.8:c.3406+77C>T ENSP00000364979.4:n.3406+77C>T
NM_001845.5:c.3406+77C>T NP_001836.3:n.3406+77C>T
XM_011521048.1:c.3214+77C>T XP_011519350.1:n.3214+77C>T
XM_011521048.2:c.3214+77C>T XP_011519350.1:n.3214+77C>T
NM_001845.6:c.3406+77C>T MANE Select NP_001836.3:n.3406+77C>T
Search 100 bp 5'
Search 100 bp 3'