Canonical Allele Identifier: CA8407187

Gene: ZSWIM7 TTC19

Linked Data

• ClinVar Variation Id: 321937
• ClinVar RCV Id: RCV000334549 ; RCV000432480
• dbSNP Id: rs753100200
• ExAC: 17:15902985 C / T
• gnomAD v2: 17-15902985-C-T
• gnomAD v3: 17-15999671-C-T
• gnomAD v4: 17-15999671-C-T
• MyVariant Identifiers: chr17:g.15902985C>T (hg19) ; chr17:g.15999671C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999671C>T , CM000679.2:g.15999671C>T	GRCh38
NC_000017.10:g.15902985C>T , CM000679.1:g.15902985C>T	GRCh37
NC_000017.9:g.15843710C>T	NCBI36
NG_029806.1:g.5292C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399277.6:c.-77G>A (ZSWIM7) MANE Select	ENSP00000382218.1:n.-77G>A
ENST00000261647.9:c.-178C>T (TTC19)	ENSP00000261647.5:n.-178C>T
ENST00000399277.5:c.-77G>A (ZSWIM7)	ENSP00000382218.1:n.-77G>A
ENST00000399280.6:n.24G>A (ZSWIM7)
ENST00000460252.5:c.-77G>A (ZSWIM7)	ENSP00000464463.1:n.-77G>A
ENST00000460315.5:c.-77G>A (ZSWIM7)	ENSP00000462590.1:n.-77G>A
ENST00000472495.5:c.-77G>A (ZSWIM7)	ENSP00000419138.1:n.-77G>A
ENST00000491631.5:c.-77G>A (ZSWIM7)	ENSP00000462598.1:n.-77G>A
ENST00000495825.6:n.13G>A (ZSWIM7)
ENST00000497719.5:n.43G>A (ZSWIM7)
ENST00000579955.1:c.-77G>A (ZSWIM7)	ENSP00000463444.1:n.-77G>A
NM_001042697.1:c.-77G>A (ZSWIM7)	NP_001036162.1:n.-77G>A
NM_001042698.1:c.-77G>A (ZSWIM7)	NP_001036163.1:n.-77G>A
NM_001271420.1:c.-636C>T (TTC19)	NP_001258349.1:n.-636C>T
NM_017775.3:c.-178C>T (TTC19)	NP_060245.3:n.-178C>T
NM_001042697.2:c.-77G>A (ZSWIM7) MANE Select	NP_001036162.1:n.-77G>A
NM_001042698.2:c.-77G>A (ZSWIM7)	NP_001036163.1:n.-77G>A