Canonical Allele Identifier: CA372083037

Gene: ZFAT

Linked Data

• MyVariant Identifiers: chr8:g.135490775T>G (hg19) ; chr8:g.134478532T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.134478532T>G , CM000670.2:g.134478532T>G	GRCh38
NC_000008.10:g.135490775T>G , CM000670.1:g.135490775T>G	GRCh37
NC_000008.9:g.135559957T>G	NCBI36
NG_016356.1:g.239518A>C
NG_016356.2:g.239518A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377838.8:c.3682A>C MANE Select	ENSP00000367069.3:p.Met1228Leu
ENST00000377838.7:c.3682A>C	ENSP00000367069.3:p.Met1228Leu
ENST00000429442.6:c.*65A>C	ENSP00000394501.2:n.*65A>C
ENST00000518408.5:n.1045A>C
ENST00000520214.5:c.3646A>C	ENSP00000428483.1:p.Met1216Leu
ENST00000520356.5:c.3388A>C	ENSP00000427879.1:p.Met1130Leu
ENST00000520727.5:c.3646A>C	ENSP00000427831.1:p.Met1216Leu
ENST00000521673.5:c.442A>C	ENSP00000429600.1:p.Met148Leu
ENST00000523243.5:c.*851A>C	ENSP00000429930.1:n.*851A>C
ENST00000523399.5:c.3496A>C	ENSP00000429091.1:p.Met1166Leu
ENST00000523924.5:c.*3664A>C	ENSP00000429050.1:n.*3664A>C
NM_001029939.3:c.3646A>C	NP_001025110.2:p.Met1216Leu
NM_001167583.2:c.3646A>C	NP_001161055.1:p.Met1216Leu
NM_001174157.1:c.3496A>C	NP_001167628.1:p.Met1166Leu
NM_001174158.1:c.3388A>C	NP_001167629.1:p.Met1130Leu
NM_001289394.1:c.3646A>C	NP_001276323.1:p.Met1216Leu
NM_020863.3:c.3682A>C	NP_065914.2:p.Met1228Leu
NR_110323.1:n.4034A>C
XM_011517203.1:c.3646A>C	XP_011515505.1:p.Met1216Leu
XM_011517204.1:c.3496A>C	XP_011515506.1:p.Met1166Leu
XM_011517204.2:c.3496A>C	XP_011515506.1:p.Met1166Leu
XR_001745569.1:n.3574A>C
XR_928343.2:n.3802A>C
NM_020863.4:c.3682A>C MANE Select	NP_065914.2:p.Met1228Leu
NM_001029939.4:c.3646A>C	NP_001025110.2:p.Met1216Leu
NM_001167583.3:c.3646A>C	NP_001161055.1:p.Met1216Leu
NM_001174157.2:c.3496A>C	NP_001167628.1:p.Met1166Leu
NM_001174158.2:c.3388A>C	NP_001167629.1:p.Met1130Leu
NM_001289394.2:c.3646A>C	NP_001276323.1:p.Met1216Leu
NR_110323.2:n.4016A>C