Canonical Allele Identifier: CA2957740

Gene: ANKRD17

Linked Data

• ClinVar Variation Id: 1805225
• ClinVar RCV Id: RCV002471643 ; RCV003340497
• dbSNP Id: rs140843867
• ExAC: 4:73942680 T / G
• gnomAD v2: 4-73942680-T-G
• gnomAD v3: 4-73076963-T-G
• gnomAD v4: 4-73076963-T-G
• MyVariant Identifiers: chr4:g.73942680T>G (hg19) ; chr4:g.73076963T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.73076963T>G , CM000666.2:g.73076963T>G	GRCh38
NC_000004.11:g.73942680T>G , CM000666.1:g.73942680T>G	GRCh37
NC_000004.10:g.74161544T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000358602.9:c.7729A>C MANE Select	ENSP00000351416.4:p.Thr2577Pro
ENST00000330838.10:c.6976A>C	ENSP00000332265.6:p.Thr2326Pro
ENST00000358602.8:c.7729A>C	ENSP00000351416.4:p.Thr2577Pro
ENST00000509867.6:c.7390A>C	ENSP00000427151.2:p.Thr2464Pro
ENST00000558247.5:c.7380A>C
NM_001286771.1:c.7390A>C	NP_001273700.1:p.Thr2464Pro
NM_032217.3:c.7729A>C	NP_115593.3:p.Thr2577Pro
NM_198889.1:c.6976A>C	NP_942592.1:p.Thr2326Pro
XM_005265667.3:c.7726A>C	XP_005265724.1:p.Thr2576Pro
XM_005265671.3:c.6973A>C	XP_005265728.1:p.Thr2325Pro
NM_001286771.2:c.7390A>C	NP_001273700.1:p.Thr2464Pro
NM_015574.1:c.7726A>C	NP_056389.1:p.Thr2576Pro
NM_032217.4:c.7729A>C	NP_115593.3:p.Thr2577Pro
NM_198889.2:c.6976A>C	NP_942592.1:p.Thr2326Pro
XM_005265671.4:c.6973A>C	XP_005265728.1:p.Thr2325Pro
XM_017008011.1:c.7387A>C	XP_016863500.1:p.Thr2463Pro
XM_017008012.1:c.6637A>C	XP_016863501.1:p.Thr2213Pro
XM_017008013.1:c.6634A>C	XP_016863502.1:p.Thr2212Pro
NM_001286771.3:c.7390A>C	NP_001273700.1:p.Thr2464Pro
NM_015574.2:c.7726A>C	NP_056389.1:p.Thr2576Pro
NM_032217.5:c.7729A>C MANE Select	NP_115593.3:p.Thr2577Pro
NM_198889.3:c.6976A>C	NP_942592.1:p.Thr2326Pro