Canonical Allele Identifier: CA413436977
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68829780-G-T
MyVariant Identifiers: chrX:g.68049623G>T (hg19) chrX:g.68829780G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.4G>T MANE Select ENSP00000204961.4:p.Ala2Ser
ENST00000204961.4:c.4G>T ENSP00000204961.4:p.Ala2Ser
NM_004429.4:c.4G>T NP_004420.1:p.Ala2Ser
NM_004429.5:c.4G>T MANE Select NP_004420.1:p.Ala2Ser
Search 100 bp 5'
Search 100 bp 3'