Canonical Allele Identifier: CA388662043
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs368747978
gnomAD v2: 13-110822094-A-C
gnomAD v4: 13-110169747-A-C
MyVariant Identifiers: chr13:g.110822094A>C (hg19) chr13:g.110169747A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169747A>C , CM000675.2:g.110169747A>C GRCh38
NC_000013.10:g.110822094A>C , CM000675.1:g.110822094A>C GRCh37
NC_000013.9:g.109620095A>C NCBI36
NG_011544.2:g.142403T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3758T>G MANE Select ENSP00000364979.4:p.Met1253Arg
ENST00000375820.8:c.3758T>G ENSP00000364979.4:p.Met1253Arg
NM_001845.5:c.3758T>G NP_001836.3:p.Met1253Arg
XM_011521048.1:c.3566T>G XP_011519350.1:p.Met1189Arg
XM_011521048.2:c.3566T>G XP_011519350.1:p.Met1189Arg
NM_001845.6:c.3758T>G MANE Select NP_001836.3:p.Met1253Arg
Search 100 bp 5'
Search 100 bp 3'