Canonical Allele Identifier: CA362376992

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1311184017
• MyVariant Identifiers: chr5:g.177035994G>C (hg19) ; chr5:g.177608993G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608993G>C , CM000667.2:g.177608993G>C	GRCh38
NC_000005.9:g.177035994G>C , CM000667.1:g.177035994G>C	GRCh37
NC_000005.8:g.176968600G>C	NCBI36
NG_015977.1:g.13876G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.807G>C MANE Select	ENSP00000029410.5:p.Lys269Asn
ENST00000029410.9:c.807G>C	ENSP00000029410.5:p.Lys269Asn
ENST00000505145.1:n.1905G>C
ENST00000505433.5:c.*313G>C	ENSP00000425591.1:n.*313G>C
ENST00000515353.1:n.1629G>C
NM_007255.2:c.807G>C	NP_009186.1:p.Lys269Asn
XM_005265805.2:c.465G>C	XP_005265862.1:p.Lys155Asn
XM_006714816.2:c.327G>C	XP_006714879.1:p.Lys109Asn
XM_011534421.1:c.465G>C	XP_011532723.1:p.Lys155Asn
XM_006714816.4:c.327G>C	XP_006714879.1:p.Lys109Asn
XM_017008999.2:c.465G>C	XP_016864488.1:p.Lys155Asn
NM_007255.3:c.807G>C MANE Select	NP_009186.1:p.Lys269Asn