Canonical Allele Identifier: CA642410739

Gene: EFNB1

Linked Data

• dbSNP Id: rs1486008309
• gnomAD v2: X-68049583-G-T
• gnomAD v4: X-68829740-G-T
• MyVariant Identifiers: chrX:g.68049583G>T (hg19) ; chrX:g.68829740G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68829740G>T , CM000685.2:g.68829740G>T	GRCh38
NC_000023.10:g.68049583G>T , CM000685.1:g.68049583G>T	GRCh37
NC_000023.9:g.67966308G>T	NCBI36
NG_008887.1:g.5744G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000204961.5:c.-37G>T MANE Select	ENSP00000204961.4:n.-37G>T
ENST00000204961.4:c.-37G>T	ENSP00000204961.4:n.-37G>T
NM_004429.4:c.-37G>T	NP_004420.1:n.-37G>T
NM_004429.5:c.-37G>T MANE Select	NP_004420.1:n.-37G>T