Canonical Allele Identifier: CA2580605870
Community Standard Title: NM_006885.4(ZFHX3):c.-50+30031G>T
Gene: ZFHX3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.73017721C>A , CM000678.2:g.73017721C>A GRCh38
NC_000016.9:g.73051620C>A , CM000678.1:g.73051620C>A GRCh37
NC_000016.8:g.71609121C>A NCBI36
NG_013211.1:g.45915G>T
NG_013211.2:g.879211G>T

Transcript Alleles

HGVS Amino-acid Change
NM_006885.4:c.-50+30031G>T MANE Select NP_008816.3:n.-50+30031G>T
ENST00000268489.10:c.-50+30031G>T MANE Select ENSP00000268489.5:n.-50+30031G>T
NM_001164766.1:c.-24+40809G>T NP_001158238.1:n.-24+40809G>T
NM_001164766.2:c.-24+40809G>T NP_001158238.1:n.-24+40809G>T
NM_001386735.1:c.-49-57527G>T NP_001373664.1:n.-49-57527G>T
NM_006885.3:c.-50+30031G>T NP_008816.3:n.-50+30031G>T
ENST00000268489.9:c.-50+30031G>T ENSP00000268489.5:n.-50+30031G>T
ENST00000397992.5:c.-24+40809G>T ENSP00000438926.3:n.-24+40809G>T
ENST00000641206.2:c.-50+40809G>T ENSP00000493252.1:n.-50+40809G>T
XM_005255957.2:c.-50+30031G>T XP_005256014.1:n.-50+30031G>T
XM_005255957.4:c.-50+30031G>T XP_005256014.1:n.-50+30031G>T
XM_017023251.2:c.70+30031G>T XP_016878740.1:n.70+30031G>T
XM_024450291.1:c.70+30031G>T XP_024306059.1:n.70+30031G>T