Canonical Allele Identifier: CA302702

Gene: ZSWIM7 TTC19

Linked Data

• ClinVar Variation Id: 137770
• ClinVar RCV Id: RCV000173456 ; RCV000394700
• dbSNP Id: rs73276077
• ExAC: 17:15902994 C / G
• gnomAD v2: 17-15902994-C-G
• gnomAD v3: 17-15999680-C-G
• gnomAD v4: 17-15999680-C-G
• MyVariant Identifiers: chr17:g.15902994C>G (hg19) ; chr17:g.15999680C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999680C>G , CM000679.2:g.15999680C>G	GRCh38
NC_000017.10:g.15902994C>G , CM000679.1:g.15902994C>G	GRCh37
NC_000017.9:g.15843719C>G	NCBI36
NG_029806.1:g.5301C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000399277.6:c.-86G>C (ZSWIM7) MANE Select	ENSP00000382218.1:n.-86G>C
ENST00000261647.9:c.-169C>G (TTC19)	ENSP00000261647.5:n.-169C>G
ENST00000399277.5:c.-86G>C (ZSWIM7)	ENSP00000382218.1:n.-86G>C
ENST00000399280.6:n.15G>C (ZSWIM7)
ENST00000460252.5:c.-86G>C (ZSWIM7)	ENSP00000464463.1:n.-86G>C
ENST00000460315.5:c.-86G>C (ZSWIM7)	ENSP00000462590.1:n.-86G>C
ENST00000472495.5:c.-86G>C (ZSWIM7)	ENSP00000419138.1:n.-86G>C
ENST00000491631.5:c.-86G>C (ZSWIM7)	ENSP00000462598.1:n.-86G>C
ENST00000495825.6:n.4G>C (ZSWIM7)
ENST00000497719.5:n.34G>C (ZSWIM7)
ENST00000579955.1:c.-86G>C (ZSWIM7)	ENSP00000463444.1:n.-86G>C
NM_001042697.1:c.-86G>C (ZSWIM7)	NP_001036162.1:n.-86G>C
NM_001042698.1:c.-86G>C (ZSWIM7)	NP_001036163.1:n.-86G>C
NM_001271420.1:c.-627C>G (TTC19)	NP_001258349.1:n.-627C>G
NM_017775.3:c.-169C>G (TTC19)	NP_060245.3:n.-169C>G
NM_001042697.2:c.-86G>C (ZSWIM7) MANE Select	NP_001036162.1:n.-86G>C
NM_001042698.2:c.-86G>C (ZSWIM7)	NP_001036163.1:n.-86G>C