Canonical Allele Identifier: CA549774447

Gene:

Linked Data

• dbSNP Id: rs1431184868
• gnomAD v2: 4-11503513-T-G
• gnomAD v3: 4-11501889-T-G
• gnomAD v4: 4-11501889-T-G
• MyVariant Identifiers: chr4:g.11503513T>G (hg19) ; chr4:g.11501889T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.11501889T>G , CM000666.2:g.11501889T>G	GRCh38
NC_000004.11:g.11503513T>G , CM000666.1:g.11503513T>G	GRCh37
NC_000004.10:g.11112611T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741361.1:n.950+19043T>G