Canonical Allele Identifier: CA590176112

Gene:

Linked Data

• dbSNP Id: rs1470922068
• gnomAD v2: 9-120559064-C-T
• gnomAD v3: 9-117796786-C-T
• gnomAD v4: 9-117796786-C-T
• MyVariant Identifiers: chr9:g.120559064C>T (hg19) ; chr9:g.117796786C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117796786C>T , CM000671.2:g.117796786C>T	GRCh38
NC_000009.11:g.120559064C>T , CM000671.1:g.120559064C>T	GRCh37
NC_000009.10:g.119598885C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646089.2:c.94-51279C>T	ENSP00000496197.1:n.94-51279C>T
ENST00000697624.1:n.201-51279C>T
ENST00000697636.1:c.94-51279C>T	ENSP00000513366.1:n.94-51279C>T
ENST00000697637.1:c.94-51279C>T	ENSP00000513367.1:n.94-51279C>T
ENST00000697664.1:c.*86+29536C>T	ENSP00000513389.1:n.*86+29536C>T
ENST00000697665.1:c.94-51279C>T	ENSP00000513390.1:n.94-51279C>T
ENST00000697666.1:c.141-51279C>T	ENSP00000513391.1:n.141-51279C>T
ENST00000642985.1:c.261-51279C>T	ENSP00000493686.1:n.261-51279C>T
ENST00000646089.1:c.94-51279C>T	ENSP00000496197.1:n.94-51279C>T
ENST00000665764.1:c.94-51279C>T	ENSP00000499745.1:n.94-51279C>T
XR_930289.1:n.1628-6195C>T
XR_001746915.1:n.2244-6195C>T