Canonical Allele Identifier: CA735545617

Gene:

Linked Data

• dbSNP Id: rs1482054139
• gnomAD v3: 1-38168079-T-C
• gnomAD v4: 1-38168079-T-C
• MyVariant Identifiers: chr1:g.38633751T>C (hg19) ; chr1:g.38168079T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.38168079T>C , CM000663.2:g.38168079T>C	GRCh38
NC_000001.10:g.38633751T>C , CM000663.1:g.38633751T>C	GRCh37
NC_000001.9:g.38406338T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_947202.1:n.175+6256T>C
XR_947203.1:n.62-24926T>C
XR_947204.1:n.175+6256T>C
XR_947205.1:n.175+6256T>C
XR_001737984.1:n.175+6256T>C
XR_001737985.1:n.62-24926T>C
XR_001737986.1:n.175+6256T>C
XR_001737987.1:n.175+6256T>C
XR_002958294.1:n.175+6256T>C
XR_947205.2:n.175+6256T>C