Canonical Allele Identifier: CA4788555

Gene: ZFHX4

Linked Data

• dbSNP Id: rs768045208
• ExAC: 8:77776497 C / T
• gnomAD v2: 8-77776497-C-T
• gnomAD v4: 8-76864261-C-T
• MyVariant Identifiers: chr8:g.77776497C>T (hg19) ; chr8:g.76864261C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76864261C>T , CM000670.2:g.76864261C>T	GRCh38
NC_000008.10:g.77776497C>T , CM000670.1:g.77776497C>T	GRCh37
NC_000008.9:g.77939052C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651372.2:c.10547C>T MANE Select	ENSP00000498627.1:p.Pro3516Leu
ENST00000518282.5:c.10469C>T	ENSP00000430848.1:p.Pro3490Leu
ENST00000521891.6:c.10547C>T	ENSP00000430497.2:p.Pro3516Leu
NM_024721.4:c.10547C>T	NP_078997.4:p.Pro3516Leu
XM_011517592.1:c.10547C>T	XP_011515894.1:p.Pro3516Leu
XM_011517593.1:c.10547C>T	XP_011515895.1:p.Pro3516Leu
XM_011517594.1:c.10547C>T	XP_011515896.1:p.Pro3516Leu
XM_011517595.1:c.10547C>T	XP_011515897.1:p.Pro3516Leu
XM_011517596.1:c.10469C>T	XP_011515898.1:p.Pro3490Leu
XM_011517597.1:c.10430C>T	XP_011515899.1:p.Pro3477Leu
XM_011517592.3:c.10547C>T	XP_011515894.1:p.Pro3516Leu
XM_011517593.2:c.10547C>T	XP_011515895.1:p.Pro3516Leu
XM_011517594.2:c.10547C>T	XP_011515896.1:p.Pro3516Leu
XM_011517595.2:c.10547C>T	XP_011515897.1:p.Pro3516Leu
XM_011517596.2:c.10469C>T	XP_011515898.1:p.Pro3490Leu
XM_011517597.2:c.10430C>T	XP_011515899.1:p.Pro3477Leu
XM_017013845.1:c.10352C>T	XP_016869334.1:p.Pro3451Leu
NM_024721.5:c.10547C>T MANE Select	NP_078997.4:p.Pro3516Leu