Canonical Allele Identifier: CA796265704

Gene:

Linked Data

• dbSNP Id: rs1220975821
• MyVariant Identifiers: chr4:g.55094553C>T (hg19) ; chr4:g.54228386C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54228386C>T , CM000666.2:g.54228386C>T	GRCh38
NC_000004.11:g.55094553C>T , CM000666.1:g.55094553C>T	GRCh37
NC_000004.10:g.54789310C>T	NCBI36
NG_009250.1:g.4290C>T , LRG_309:g.4290C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507166.5:c.1018-46539C>T	ENSP00000423325.1:n.1018-46539C>T