Canonical Allele Identifier: CA288187717

Gene: ZSWIM7 TTC19

Linked Data

• dbSNP Id: rs1002928099
• gnomAD v3: 17-15999553-G-T
• gnomAD v4: 17-15999553-G-T
• MyVariant Identifiers: chr17:g.15902867G>T (hg19) ; chr17:g.15999553G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999553G>T , CM000679.2:g.15999553G>T	GRCh38
NC_000017.10:g.15902867G>T , CM000679.1:g.15902867G>T	GRCh37
NC_000017.9:g.15843592G>T	NCBI36
NG_029806.1:g.5174G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399277.6:c.42C>A (ZSWIM7) MANE Select	ENSP00000382218.1:p.Ser14Arg
ENST00000261647.9:c.-296G>T (TTC19)	ENSP00000261647.5:n.-296G>T
ENST00000399277.5:c.42C>A (ZSWIM7)	ENSP00000382218.1:p.Ser14Arg
ENST00000399280.6:n.35+107C>A (ZSWIM7)
ENST00000460252.5:c.42C>A (ZSWIM7)	ENSP00000464463.1:p.Ser14Arg
ENST00000460315.5:c.42C>A (ZSWIM7)	ENSP00000462590.1:p.Ser14Arg
ENST00000472495.5:c.42C>A (ZSWIM7)	ENSP00000419138.1:p.Ser14Arg
ENST00000474716.5:c.42C>A (ZSWIM7)	ENSP00000464500.1:p.Ser14Arg
ENST00000476496.5:c.36C>A (ZSWIM7)	ENSP00000462208.1:p.Ser12Arg
ENST00000486655.5:c.-4C>A (ZSWIM7)	ENSP00000464371.1:n.-4C>A
ENST00000486706.6:c.42C>A (ZSWIM7)	ENSP00000463327.1:p.Ser14Arg
ENST00000490395.5:c.42C>A (ZSWIM7)	ENSP00000464605.1:p.Ser14Arg
ENST00000491631.5:c.42C>A (ZSWIM7)	ENSP00000462598.1:p.Ser14Arg
ENST00000495825.6:n.24+107C>A (ZSWIM7)
ENST00000497719.5:n.54+107C>A (ZSWIM7)
ENST00000579955.1:c.42C>A (ZSWIM7)	ENSP00000463444.1:p.Ser14Arg
ENST00000584519.5:c.42C>A (ZSWIM7)	ENSP00000463592.1:p.Ser14Arg
ENST00000585208.5:c.42C>A (ZSWIM7)	ENSP00000464227.1:p.Ser14Arg
NM_001042697.1:c.42C>A (ZSWIM7)	NP_001036162.1:p.Ser14Arg
NM_001042698.1:c.42C>A (ZSWIM7)	NP_001036163.1:p.Ser14Arg
NM_001271420.1:c.-754G>T (TTC19)	NP_001258349.1:n.-754G>T
NM_017775.3:c.-296G>T (TTC19)	NP_060245.3:n.-296G>T
NM_001042697.2:c.42C>A (ZSWIM7) MANE Select	NP_001036162.1:p.Ser14Arg
NM_001042698.2:c.42C>A (ZSWIM7)	NP_001036163.1:p.Ser14Arg