Canonical Allele Identifier: CA371531571
Gene: ZFHX4 HGNC NCBI

Linked Data

dbSNP Id: rs1385302219
gnomAD v2: 8-77776502-C-A
gnomAD v3: 8-76864266-C-A
gnomAD v4: 8-76864266-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.76864266C>A , CM000670.2:g.76864266C>A GRCh38
NC_000008.10:g.77776502C>A , CM000670.1:g.77776502C>A GRCh37
NC_000008.9:g.77939057C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651372.2:c.10552C>A MANE Select ENSP00000498627.1:p.Leu3518Ile
ENST00000518282.5:c.10474C>A ENSP00000430848.1:p.Leu3492Ile
ENST00000521891.6:c.10552C>A ENSP00000430497.2:p.Leu3518Ile
NM_024721.4:c.10552C>A NP_078997.4:p.Leu3518Ile
XM_011517592.1:c.10552C>A XP_011515894.1:p.Leu3518Ile
XM_011517593.1:c.10552C>A XP_011515895.1:p.Leu3518Ile
XM_011517594.1:c.10552C>A XP_011515896.1:p.Leu3518Ile
XM_011517595.1:c.10552C>A XP_011515897.1:p.Leu3518Ile
XM_011517596.1:c.10474C>A XP_011515898.1:p.Leu3492Ile
XM_011517597.1:c.10435C>A XP_011515899.1:p.Leu3479Ile
XM_011517592.3:c.10552C>A XP_011515894.1:p.Leu3518Ile
XM_011517593.2:c.10552C>A XP_011515895.1:p.Leu3518Ile
XM_011517594.2:c.10552C>A XP_011515896.1:p.Leu3518Ile
XM_011517595.2:c.10552C>A XP_011515897.1:p.Leu3518Ile
XM_011517596.2:c.10474C>A XP_011515898.1:p.Leu3492Ile
XM_011517597.2:c.10435C>A XP_011515899.1:p.Leu3479Ile
XM_017013845.1:c.10357C>A XP_016869334.1:p.Leu3453Ile
NM_024721.5:c.10552C>A MANE Select NP_078997.4:p.Leu3518Ile