Canonical Allele Identifier: CA12384711
Gene: ID4 HGNC NCBI
dbSNP:
1047014
gnomAD v2:
6:19841493 T / C
gnomAD v3:
6:19841262 T / C
gnomAD v4:
chr6-19841262-T-C
Joint Max Group AF 0.24883396 (NFE)
Genomes Max Group AF 0.24883396 (NFE)
MyVariant.info:
GRCh38 chr6:g.19841262T>C
GRCh37 chr6:g.19841493T>C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.19841262T>C , CM000668.2:g.19841262T>C GRCh38
NC_000006.11:g.19841493T>C , CM000668.1:g.19841493T>C GRCh37
NC_000006.10:g.19949472T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378700.8:c.*2067T>C MANE Select ENSP00000367972.3:n.*2067T>C
NM_001546.3:c.*2067T>C NP_001537.1:n.*2067T>C
NM_001546.4:c.*2067T>C MANE Select NP_001537.1:n.*2067T>C
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