Canonical Allele Identifier: CA8600198

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 255908
• ClinVar RCV Id: RCV000248420 ; RCV002487118 ; RCV002518575
• dbSNP Id: rs556266412
• ExAC: 17:42333029 G / A
• gnomAD v2: 17-42333029-G-A
• gnomAD v3: 17-44255661-G-A
• gnomAD v4: 17-44255661-G-A
• MyVariant Identifiers: chr17:g.42333029G>A (hg19) ; chr17:g.44255661G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44255661G>A , CM000679.2:g.44255661G>A	GRCh38
NC_000017.10:g.42333029G>A , CM000679.1:g.42333029G>A	GRCh37
NC_000017.9:g.39688555G>A	NCBI36
NG_007498.1:g.17474C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262418.12:c.1800+12C>T MANE Select	ENSP00000262418.6:n.1800+12C>T
ENST00000262418.10:c.1800+12C>T	ENSP00000262418.6:n.1800+12C>T
ENST00000399246.3:c.778-440C>T	ENSP00000382190.3:n.778-440C>T
NM_000342.3:c.1800+12C>T	NP_000333.1:n.1800+12C>T
XM_005257593.3:c.1605+12C>T	XP_005257650.1:n.1605+12C>T
XM_011525129.1:c.1800+12C>T	XP_011523431.1:n.1800+12C>T
XM_011525130.1:c.1800+12C>T	XP_011523432.1:n.1800+12C>T
XM_011525131.1:c.1800+12C>T	XP_011523433.1:n.1800+12C>T
XM_005257593.5:c.1605+12C>T	XP_005257650.1:n.1605+12C>T
XM_011525129.2:c.1800+12C>T	XP_011523431.1:n.1800+12C>T
NM_000342.4:c.1800+12C>T MANE Select	NP_000333.1:n.1800+12C>T