Canonical Allele Identifier: CA8599927

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 323483
• ClinVar RCV Id: RCV000264763 ; RCV000319937 ; RCV000359379
• dbSNP Id: rs768606768
• ExAC: 17:42326552 TC / T
• gnomAD v2: 17-42326552-TC-T
• gnomAD v3: 17-44249184-TC-T
• gnomAD v4: 17-44249184-TC-T
• MyVariant Identifiers: chr17:g.42326553del (hg19) ; chr17:g.44249185del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249186del , CM000679.2:g.44249186del	GRCh38
NC_000017.10:g.42326554del , CM000679.1:g.42326554del	GRCh37
NC_000017.9:g.39682080del	NCBI36
NG_007498.1:g.23950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*1273del MANE Select	ENSP00000262418.6:n.*1273del
ENST00000262418.10:c.*1273del	ENSP00000262418.6:n.*1273del
ENST00000399246.3:c.*1273del	ENSP00000382190.3:n.*1273del
ENST00000631130.1:c.20del	ENSP00000486787.1:p.Gly7GlufsTer?
NM_000342.3:c.*1273del	NP_000333.1:n.*1273del
XM_005257593.3:c.*1273del	XP_005257650.1:n.*1273del
XM_011525129.1:c.*1273del	XP_011523431.1:n.*1273del
NM_000342.4:c.*1273del MANE Select	NP_000333.1:n.*1273del