Canonical Allele Identifier: CA3041577
Gene: CASP6 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.109698378T>G
GRCh37 chr4:g.110619534T>G
gnomAD v2:
4:110619534 T / G
gnomAD v3:
4:109698378 T / G
gnomAD v4:
chr4-109698378-T-G
Joint Max Group AF 0.84407085 (AFR)
Genomes Max Group AF 0.83852114 (AFR)
Exomes Max Group AF 0.84593386 (AFR)
dbSNP:
2301717
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109698378T>G , CM000666.2:g.109698378T>G GRCh38
NC_000004.11:g.110619534T>G , CM000666.1:g.110619534T>G GRCh37
NC_000004.10:g.110838983T>G NCBI36
NG_029187.1:g.10096A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265164.7:c.41-36A>C MANE Select ENSP00000265164.2:n.41-36A>C
ENST00000265164.6:c.41-36A>C ENSP00000265164.2:n.41-36A>C
ENST00000352981.7:c.41-3678A>C ENSP00000285333.3:n.41-3678A>C
ENST00000503684.5:c.-14-36A>C ENSP00000427669.1:n.-14-36A>C
ENST00000505486.1:c.41-36A>C ENSP00000424080.1:n.41-36A>C
NM_001226.3:c.41-36A>C NP_001217.2:n.41-36A>C
NM_032992.2:c.41-3678A>C NP_116787.1:n.41-3678A>C
NR_133012.1:n.119-36A>C
XM_005263271.3:c.17-36A>C XP_005263328.1:n.17-36A>C
NM_001226.4:c.41-36A>C MANE Select NP_001217.2:n.41-36A>C
NM_032992.3:c.41-3678A>C NP_116787.1:n.41-3678A>C
NR_133012.2:n.91-36A>C
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