Canonical Allele Identifier: CA413436976
Gene: EFNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1301370944
gnomAD v3: X-68829780-G-C
gnomAD v4: X-68829780-G-C
MyVariant Identifiers: chrX:g.68049623G>C (hg19) chrX:g.68829780G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829780G>C , CM000685.2:g.68829780G>C GRCh38
NC_000023.10:g.68049623G>C , CM000685.1:g.68049623G>C GRCh37
NC_000023.9:g.67966348G>C NCBI36
NG_008887.1:g.5784G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.4G>C MANE Select ENSP00000204961.4:p.Ala2Pro
ENST00000204961.4:c.4G>C ENSP00000204961.4:p.Ala2Pro
NM_004429.4:c.4G>C NP_004420.1:p.Ala2Pro
NM_004429.5:c.4G>C MANE Select NP_004420.1:p.Ala2Pro
Search 100 bp 5'
Search 100 bp 3'