Canonical Allele Identifier: CA597436178

Gene: HBG1 HBG2

Linked Data

• dbSNP Id: rs1244378986
• gnomAD v2: 11-5270906-C-T
• gnomAD v3: 11-5249676-C-T
• gnomAD v4: 11-5249676-C-T
• MyVariant Identifiers: chr11:g.5270906C>T (hg19) ; chr11:g.5249676C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249676C>T , CM000673.2:g.5249676C>T	GRCh38
NC_000011.9:g.5270906C>T , CM000673.1:g.5270906C>T	GRCh37
NC_000011.8:g.5227482C>T	NCBI36
NG_000007.3:g.47940G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.92+37G>A (HBG1) MANE Select	ENSP00000327431.4:n.92+37G>A
ENST00000642908.1:c.316-1189G>A	ENSP00000495346.1:n.316-1189G>A
ENST00000647543.1:c.379-1189G>A	ENSP00000496470.1:n.379-1189G>A
ENST00000648735.1:n.143+37G>A (HBG1)
ENST00000330597.3:c.92+37G>A (HBG1)	ENSP00000327431.3:n.92+37G>A
ENST00000620888.4:c.316-1189G>A (HBG2)	ENSP00000479637.1:n.316-1189G>A
ENST00000623781.1:c.265-36C>T	ENSP00000485381.1:n.265-36C>T
ENST00000632727.1:c.54+75G>A (HBG1)	ENSP00000488759.1:n.54+75G>A
NM_000559.2:c.92+37G>A (HBG1)	NP_000550.2:n.92+37G>A
NM_000559.3:c.92+37G>A (HBG1) MANE Select	NP_000550.2:n.92+37G>A