Canonical Allele Identifier: CA984004544

Gene: SLC4A1

Linked Data

• gnomAD v3: 17-44254136-G-C
• gnomAD v4: 17-44254136-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254136G>C , CM000679.2:g.44254136G>C	GRCh38
NC_000017.10:g.42331504G>C , CM000679.1:g.42331504G>C	GRCh37
NC_000017.9:g.39687030G>C	NCBI36
NG_007498.1:g.18999C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+360C>G MANE Select	ENSP00000262418.6:n.2057+360C>G
ENST00000262418.10:c.2057+360C>G	ENSP00000262418.6:n.2057+360C>G
ENST00000399246.3:c.959+360C>G	ENSP00000382190.3:n.959+360C>G
NM_000342.3:c.2057+360C>G	NP_000333.1:n.2057+360C>G
XM_005257593.3:c.1862+360C>G	XP_005257650.1:n.1862+360C>G
XM_011525129.1:c.1967+360C>G	XP_011523431.1:n.1967+360C>G
XM_011525130.1:c.2057+360C>G	XP_011523432.1:n.2057+360C>G
XM_011525131.1:c.2058-328C>G	XP_011523433.1:n.2058-328C>G
XM_005257593.5:c.1862+360C>G	XP_005257650.1:n.1862+360C>G
XM_011525129.2:c.1967+360C>G	XP_011523431.1:n.1967+360C>G
NM_000342.4:c.2057+360C>G MANE Select	NP_000333.1:n.2057+360C>G