Canonical Allele Identifier: CA14273895
Gene: CHMP1A HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.89644712C>T
GRCh37 chr16:g.89711120C>T
gnomAD v2:
16:89711120 C / T
gnomAD v3:
16:89644712 C / T
gnomAD v4:
chr16-89644712-C-T
Joint Max Group AF 0.53869453 (MID)
Genomes Max Group AF 0.44784497 (NFE)
Exomes Max Group AF 0.29384729 (NFE)
dbSNP:
6860
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89644712C>T , CM000678.2:g.89644712C>T GRCh38
NC_000016.9:g.89711120C>T , CM000678.1:g.89711120C>T GRCh37
NC_000016.8:g.88238621C>T NCBI36
NG_033005.1:g.18074G>A
NG_033005.2:g.18074G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000397901.8:c.*1354G>A MANE Select ENSP00000380998.3:n.*1354G>A
ENST00000535997.7:c.*1202G>A ENSP00000442120.3:n.*1202G>A
ENST00000547687.2:n.2693G>A
ENST00000549328.2:c.*1567G>A ENSP00000447899.1:n.*1567G>A
ENST00000551981.6:n.2520G>A
ENST00000674799.1:c.*1354G>A ENSP00000502267.1:n.*1354G>A
ENST00000675016.1:c.*3269G>A ENSP00000502282.1:n.*3269G>A
ENST00000675161.1:c.*1567G>A ENSP00000501615.1:n.*1567G>A
ENST00000675309.1:c.*1818G>A ENSP00000502291.1:n.*1818G>A
ENST00000675536.1:c.*1202G>A ENSP00000501759.1:n.*1202G>A
ENST00000675760.1:n.235-18G>A
ENST00000675909.1:c.*1354G>A ENSP00000502022.1:n.*1354G>A
ENST00000675952.1:n.2214G>A
ENST00000676275.1:n.523+559G>A
ENST00000676342.1:n.3403G>A
ENST00000676355.1:c.*1354G>A ENSP00000502147.1:n.*1354G>A
ENST00000676402.1:c.*1940G>A ENSP00000501794.1:n.*1940G>A
ENST00000397901.7:c.*1354G>A ENSP00000380998.3:n.*1354G>A
ENST00000535997.6:c.*1354G>A ENSP00000442120.2:n.*1354G>A
ENST00000547687.1:n.1730G>A
NM_001083314.3:c.*1202G>A NP_001076783.1:n.*1202G>A
NM_002768.4:c.*1354G>A NP_002759.2:n.*1354G>A
NR_046418.2:n.2310G>A
XM_011523099.1:c.*1202G>A XP_011521401.1:n.*1202G>A
NM_002768.5:c.*1354G>A MANE Select NP_002759.2:n.*1354G>A
NM_001083314.4:c.*1202G>A NP_001076783.1:n.*1202G>A
NR_046418.3:n.2233G>A
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