Canonical Allele Identifier: CA2602341391

Gene:

Linked Data

• dbSNP Id: rs2131225047
• gnomAD v3: 9-117796670-T-C
• gnomAD v4: 9-117796670-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117796670T>C , CM000671.2:g.117796670T>C	GRCh38
NC_000009.11:g.120558948T>C , CM000671.1:g.120558948T>C	GRCh37
NC_000009.10:g.119598769T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646089.2:c.94-51395T>C	ENSP00000496197.1:n.94-51395T>C
ENST00000697624.1:n.201-51395T>C
ENST00000697636.1:c.94-51395T>C	ENSP00000513366.1:n.94-51395T>C
ENST00000697637.1:c.94-51395T>C	ENSP00000513367.1:n.94-51395T>C
ENST00000697664.1:c.*86+29420T>C	ENSP00000513389.1:n.*86+29420T>C
ENST00000697665.1:c.94-51395T>C	ENSP00000513390.1:n.94-51395T>C
ENST00000697666.1:c.141-51395T>C	ENSP00000513391.1:n.141-51395T>C
ENST00000642985.1:c.261-51395T>C	ENSP00000493686.1:n.261-51395T>C
ENST00000646089.1:c.94-51395T>C	ENSP00000496197.1:n.94-51395T>C
ENST00000665764.1:c.94-51395T>C	ENSP00000499745.1:n.94-51395T>C
XR_930289.1:n.1628-6311T>C
XR_001746915.1:n.2244-6311T>C