Canonical Allele Identifier: CA288187744

Gene: ZSWIM7 TTC19

Linked Data

• ClinVar Variation Id: 3184136
• ClinVar RCV Id: RCV004479022
• dbSNP Id: rs938941532
• gnomAD v2: 17-15902959-G-A
• gnomAD v4: 17-15999645-G-A
• MyVariant Identifiers: chr17:g.15902959G>A (hg19) ; chr17:g.15999645G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999645G>A , CM000679.2:g.15999645G>A	GRCh38
NC_000017.10:g.15902959G>A , CM000679.1:g.15902959G>A	GRCh37
NC_000017.9:g.15843684G>A	NCBI36
NG_029806.1:g.5266G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399277.6:c.-51C>T (ZSWIM7) MANE Select	ENSP00000382218.1:n.-51C>T
ENST00000261647.9:c.-204G>A (TTC19)	ENSP00000261647.5:n.-204G>A
ENST00000399277.5:c.-51C>T (ZSWIM7)	ENSP00000382218.1:n.-51C>T
ENST00000399280.6:n.35+15C>T (ZSWIM7)
ENST00000460252.5:c.-51C>T (ZSWIM7)	ENSP00000464463.1:n.-51C>T
ENST00000460315.5:c.-51C>T (ZSWIM7)	ENSP00000462590.1:n.-51C>T
ENST00000472495.5:c.-51C>T (ZSWIM7)	ENSP00000419138.1:n.-51C>T
ENST00000486706.6:c.-51C>T (ZSWIM7)	ENSP00000463327.1:n.-51C>T
ENST00000490395.5:c.-51C>T (ZSWIM7)	ENSP00000464605.1:n.-51C>T
ENST00000491631.5:c.-51C>T (ZSWIM7)	ENSP00000462598.1:n.-51C>T
ENST00000495825.6:n.24+15C>T (ZSWIM7)
ENST00000497719.5:n.54+15C>T (ZSWIM7)
ENST00000579955.1:c.-51C>T (ZSWIM7)	ENSP00000463444.1:n.-51C>T
NM_001042697.1:c.-51C>T (ZSWIM7)	NP_001036162.1:n.-51C>T
NM_001042698.1:c.-51C>T (ZSWIM7)	NP_001036163.1:n.-51C>T
NM_001271420.1:c.-662G>A (TTC19)	NP_001258349.1:n.-662G>A
NM_017775.3:c.-204G>A (TTC19)	NP_060245.3:n.-204G>A
NM_001042697.2:c.-51C>T (ZSWIM7) MANE Select	NP_001036162.1:n.-51C>T
NM_001042698.2:c.-51C>T (ZSWIM7)	NP_001036163.1:n.-51C>T