Canonical Allele Identifier: CA288187605
Community Standard Title: NM_001042697.2(ZSWIM7):c.76+291C>G
Gene: ZSWIM7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.15999228G>C , CM000679.2:g.15999228G>C GRCh38
NC_000017.10:g.15902542G>C , CM000679.1:g.15902542G>C GRCh37
NC_000017.9:g.15843267G>C NCBI36
NG_029806.1:g.4849G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001042697.2:c.76+291C>G MANE Select NP_001036162.1:n.76+291C>G
ENST00000399277.6:c.76+291C>G MANE Select ENSP00000382218.1:n.76+291C>G
NM_001042697.1:c.76+291C>G NP_001036162.1:n.76+291C>G
NM_001042698.1:c.76+291C>G NP_001036163.1:n.76+291C>G
NM_001042698.2:c.76+291C>G NP_001036163.1:n.76+291C>G
ENST00000399277.5:c.76+291C>G ENSP00000382218.1:n.76+291C>G
ENST00000399280.6:n.35+432C>G
ENST00000460252.5:c.92+275C>G ENSP00000464463.1:n.92+275C>G
ENST00000460315.5:c.92+275C>G ENSP00000462590.1:n.92+275C>G
ENST00000472495.5:c.76+291C>G ENSP00000419138.1:n.76+291C>G
ENST00000474716.5:c.89+278C>G ENSP00000464500.1:n.89+278C>G
ENST00000476496.5:c.86+275C>G ENSP00000462208.1:n.86+275C>G
ENST00000486655.5:c.31+291C>G ENSP00000464371.1:n.31+291C>G
ENST00000486706.6:c.89+278C>G ENSP00000463327.1:n.89+278C>G
ENST00000490395.5:c.89+278C>G ENSP00000464605.1:n.89+278C>G
ENST00000491631.5:c.89+278C>G ENSP00000462598.1:n.89+278C>G
ENST00000495825.6:n.24+432C>G
ENST00000497719.5:n.54+432C>G
ENST00000579955.1:c.89+278C>G ENSP00000463444.1:n.89+278C>G
ENST00000584519.5:c.76+291C>G ENSP00000463592.1:n.76+291C>G
ENST00000585208.5:c.89+278C>G ENSP00000464227.1:n.89+278C>G