Canonical Allele Identifier: CA4788572
Gene: ZFHX4 HGNC NCBI

Linked Data

dbSNP Id: rs369260305
gnomAD v2: 8-77776575-C-T
gnomAD v3: 8-76864339-C-T
gnomAD v4: 8-76864339-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.76864339C>T , CM000670.2:g.76864339C>T GRCh38
NC_000008.10:g.77776575C>T , CM000670.1:g.77776575C>T GRCh37
NC_000008.9:g.77939130C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651372.2:c.10625C>T MANE Select ENSP00000498627.1:p.Pro3542Leu
ENST00000518282.5:c.10547C>T ENSP00000430848.1:p.Pro3516Leu
ENST00000521891.6:c.10625C>T ENSP00000430497.2:p.Pro3542Leu
NM_024721.4:c.10625C>T NP_078997.4:p.Pro3542Leu
XM_011517592.1:c.10625C>T XP_011515894.1:p.Pro3542Leu
XM_011517593.1:c.10625C>T XP_011515895.1:p.Pro3542Leu
XM_011517594.1:c.10625C>T XP_011515896.1:p.Pro3542Leu
XM_011517595.1:c.10625C>T XP_011515897.1:p.Pro3542Leu
XM_011517596.1:c.10547C>T XP_011515898.1:p.Pro3516Leu
XM_011517597.1:c.10508C>T XP_011515899.1:p.Pro3503Leu
XM_011517592.3:c.10625C>T XP_011515894.1:p.Pro3542Leu
XM_011517593.2:c.10625C>T XP_011515895.1:p.Pro3542Leu
XM_011517594.2:c.10625C>T XP_011515896.1:p.Pro3542Leu
XM_011517595.2:c.10625C>T XP_011515897.1:p.Pro3542Leu
XM_011517596.2:c.10547C>T XP_011515898.1:p.Pro3516Leu
XM_011517597.2:c.10508C>T XP_011515899.1:p.Pro3503Leu
XM_017013845.1:c.10430C>T XP_016869334.1:p.Pro3477Leu
NM_024721.5:c.10625C>T MANE Select NP_078997.4:p.Pro3542Leu