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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA256253831
Gene: COL4A1
HGNC
NCBI
Linked Data
dbSNP Id:
rs867714403
COSMIC:
COSM5942527
COSM5942528
MyVariant Identifiers:
chr13:g.110826991G>A (hg19)
chr13:g.110174644G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.110174644G>A , CM000675.2:g.110174644G>A
GRCh38
NC_000013.10:g.110826991G>A , CM000675.1:g.110826991G>A
GRCh37
NC_000013.9:g.109624992G>A
NCBI36
NG_011544.2:g.137506C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000375820.10:c.3304C>T
MANE Select
ENSP00000364979.4:p.Pro1102Ser
ENST00000375820.8:c.3304C>T
ENSP00000364979.4:p.Pro1102Ser
NM_001845.5:c.3304C>T
NP_001836.3:p.Pro1102Ser
XM_011521048.1:c.3112C>T
XP_011519350.1:p.Pro1038Ser
XM_011521048.2:c.3112C>T
XP_011519350.1:p.Pro1038Ser
NM_001845.6:c.3304C>T
MANE Select
NP_001836.3:p.Pro1102Ser
Search 100 bp 5'
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