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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:
CA397313049
Gene: KIF1C
HGNC
NCBI
Linked Data
dbSNP Id:
rs1397753368
gnomAD v2:
17-4925577-T-A
gnomAD v4:
17-5022282-T-A
MyVariant Identifiers:
chr17:g.4925577T>A (hg19)
chr17:g.5022282T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.5022282T>A , CM000679.2:g.5022282T>A
GRCh38
NC_000017.10:g.4925577T>A , CM000679.1:g.4925577T>A
GRCh37
NC_000017.9:g.4866301T>A
NCBI36
NG_034137.1:g.29335T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000320785.10:c.2201T>A
MANE Select
ENSP00000320821.5:p.Leu734Gln
ENST00000320785.9:c.2201T>A
ENSP00000320821.5:p.Leu734Gln
NM_006612.5:c.2201T>A
NP_006603.2:p.Leu734Gln
XM_005256424.1:c.2201T>A
XP_005256481.1:p.Leu734Gln
XM_005256424.2:c.2201T>A
XP_005256481.1:p.Leu734Gln
NM_006612.6:c.2201T>A
MANE Select
NP_006603.2:p.Leu734Gln
Search 100 bp 5'
Search 100 bp 3'