Canonical Allele Identifier: CA4788554

Gene: ZFHX4

Linked Data

• ClinVar Variation Id: 3193025
• ClinVar RCV Id: RCV004485927
• dbSNP Id: rs759968003
• ExAC: 8:77776494 A / G
• gnomAD v2: 8-77776494-A-G
• gnomAD v3: 8-76864258-A-G
• gnomAD v4: 8-76864258-A-G
• MyVariant Identifiers: chr8:g.77776494A>G (hg19) ; chr8:g.76864258A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76864258A>G , CM000670.2:g.76864258A>G	GRCh38
NC_000008.10:g.77776494A>G , CM000670.1:g.77776494A>G	GRCh37
NC_000008.9:g.77939049A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651372.2:c.10544A>G MANE Select	ENSP00000498627.1:p.Tyr3515Cys
ENST00000518282.5:c.10466A>G	ENSP00000430848.1:p.Tyr3489Cys
ENST00000521891.6:c.10544A>G	ENSP00000430497.2:p.Tyr3515Cys
NM_024721.4:c.10544A>G	NP_078997.4:p.Tyr3515Cys
XM_011517592.1:c.10544A>G	XP_011515894.1:p.Tyr3515Cys
XM_011517593.1:c.10544A>G	XP_011515895.1:p.Tyr3515Cys
XM_011517594.1:c.10544A>G	XP_011515896.1:p.Tyr3515Cys
XM_011517595.1:c.10544A>G	XP_011515897.1:p.Tyr3515Cys
XM_011517596.1:c.10466A>G	XP_011515898.1:p.Tyr3489Cys
XM_011517597.1:c.10427A>G	XP_011515899.1:p.Tyr3476Cys
XM_011517592.3:c.10544A>G	XP_011515894.1:p.Tyr3515Cys
XM_011517593.2:c.10544A>G	XP_011515895.1:p.Tyr3515Cys
XM_011517594.2:c.10544A>G	XP_011515896.1:p.Tyr3515Cys
XM_011517595.2:c.10544A>G	XP_011515897.1:p.Tyr3515Cys
XM_011517596.2:c.10466A>G	XP_011515898.1:p.Tyr3489Cys
XM_011517597.2:c.10427A>G	XP_011515899.1:p.Tyr3476Cys
XM_017013845.1:c.10349A>G	XP_016869334.1:p.Tyr3450Cys
NM_024721.5:c.10544A>G MANE Select	NP_078997.4:p.Tyr3515Cys